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Genetics, Biochem Flashcards

1
Q

Turner’s syndrome

A

Missing X (XO phenotype)

  • -> lose ovarian follicles after birth “streak ovaries”
  • -> increased LH, FSH

Symptoms:

  • Short, shield chest, webbed neck
  • Lymphedema: cystic hygroma (posterior triangle of neck) at birth–> lymph outflow problems
  • CV malformations= coarctation of aorta, bicuspid aortic valve, aortic dissection
  • Horseshoe kidney
  • Dysgerminoma
  • most common cause of primary amenorrhea
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2
Q

Leukocyte adhesion syndrome

A

Genetic CD18 deficiency–> no integrin formation–> leukocytes can’t migrate from vasculature

Symptoms:

  • No pus formation
  • Late separation of umbilicus
  • Poor wound healing

Labs:
- Neutrophilia

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3
Q

MPO deficiency

A

Can’t produce H2O2

Neutrophils turn blue on nitro blue tetrazolium test

Normal NADPH activity: close to normal/normal immune system function

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4
Q

Chronic granulomatous disease

A

No NADPH oxidase
- No respiratory burst in neutrophils

Symptoms:
- Susceptible to catalase-positive infections (can break down H2O2 produced by MPO)= S. aureus, E. coli, aspergillus

Labs:

  • Neutrophils don’t turn blue on nitro blue tetrazolium test
  • Abnormal dihyrorhodamine (DHR) flow cytometry test)
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5
Q

Late complement component deficiency

A

Increased risk of Neisseria infection

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6
Q

Carbamoyl phosphate

A
  1. de Novo pyramidine synthesis
  2. Urea cycle
    - Ornithine transcarbamoylase deficiency (OTC)–> accumulation of carbamoyl phosphate–> orotic acid
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7
Q

Hydroxyurea

A

Inhibits ribonucleotide reductase

- UDP can’t be converted to dUDP (CTP buildup)

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8
Q

6-mercaptopurine (6-MP)

A

Blocks PRPP amidotransferase–> blocks de novo purine synthesis

  • Azathioprine–> 6-MP
  • de novo purine synthesis requires Glycine, Aspartate, Glutamine (GAG) and THF (tetrahydrofolate)
  • PRPP amidotransferase also inhibited by AMP, GMP, IMP, allopurinol
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9
Q

5-fluorouracil (5-FU)

A

Inhibits thymidylate synthase
–> can’t produce dTMP

“F U thymidylate synthase”

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10
Q

Methotrexate (MTX)

A

Inhibits dihydrofolate reductase
—> can’t produce dTMP

Supplement with Folinic acid (Leucovorin) to reverse methotrexate toxicity

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11
Q

Trimethoprim (TMP)

A

Inhibits BACTERIAL dihydrofolate reductase

–> can’t produce dTMP

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12
Q

Orotic aciduria

A

UMP synthase defect (autosomal recessive)
- Can’t convert orotic acid to UMP

Symptoms:

  • Orotic acid in urine (NO hyperammonemia)
  • Megaloblastic anemia (can’t help with B12 or folic acid)
  • Failure to thrive

Tx:
- Oral uridine monophosphate administration

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13
Q

OTC deficiency

A

Ornithine transcarbamoylase deficiency (OTC)–> accumulation of carbamoyl phosphate–> orotic acid

Symptoms:

  • Orotic acid in urine
  • Megaloblastic anemia (can’t help with B12 or folic acid)
  • Failure to thrive
  • Hyperammonemia
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14
Q

Adenosine deaminase deficiency

A
  • -> buildup of excess ATP, dATP–> feedback inhibition of ribonucleotide reductase–> inhibition of DNA synthesis
  • -> decreased lymphocyte count (high turnover cells)–> SCID

Autosomal recessive

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15
Q

Lesch-Nyhan syndrome

A

Absence of HGPRT
- Normally converts hypoxanthine to IMP, guanine to GMP

–> excess uric acid, de novo purine synthesis

X-linked recessive
- Retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis

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16
Q

Missense mutation

A

Changed amino acid

- Conservative change: new amino acid is similar in chemical structure/function

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17
Q

Nonsense mutation

A

Early STOP codon (Stop the nonsense!)

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18
Q

Frameshift mutation

A

Changed from multiples of 3–> all nucleotides downstream misread
–> truncated, non-functional protein

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19
Q

Xeroderma pigmentosum

A

Nucleotide excision repair defect

- Can’t repair thimine (pyramidine) dimers formed due to UV exposure (bulky adducts)

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20
Q

HNPCC

A

Hereditary nonpolyposis colorectal cancer

- Mutation in mismatch repair (unable to repair mismatched Watson-Crick nucleotides)

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21
Q

Ataxia telangiectasia

A

Mutation in nonhomologous end joining (bring together 2 ends of broken dsDNA)

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22
Q

Start codon

A

AUG

  • Eukaryotes= methionine (may be removed before translation completed)
  • Prokaryotes= formylmethionine
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23
Q

Stop codons

A

UGA (U Go Away)
UAA (U Are Away)
UAG (U Are Gone)

** Does not code for Amino Acid–> stop codon causes Releasing Factor (RF) to bind to ribosome

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24
Q

Amatoxins

A

Mushroom poison
Inhibits RNA polymerase II= halts mRNA synthesis–> cell death
- Found in Amanita phalloides= “death cap mushrooms)
- Severe hepatotoxicity if ingested

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25
Q

RNA polymerases

A

Eukaryotes:

  • RNA Pol I= rRNA
  • RNA pol II= mRNA (opens DNA at promoter site)
  • RNA pol III= tRNA
    • No proofreading function

Prokaryotes:
- RNA polymerase= multisubunit complex (all 3 RNA types)

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26
Q

snRNPs

A

Splice pre-mRNA
- Make lariat that is spliced out (intron), 2 exons joined

** Lupus= antibodies to spliceosomal snRNPs

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27
Q

I-cell disease

A

Inclusion cell disease

  • Failure to add mannose-6-phosphate to lysosome proteins (needed to traffic protein from golgi to lysosome)
  • Lysosome enzymes secreted outside cell instead of to lysosome

Symptoms:

  • Coarse facial features
  • Clouded corneas
  • Restricted joint movement
  • High plasma levels of lysosomal enzymes
  • Fatal in childhood
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28
Q

Chediak-Higashi syndrome

A

Mutation in lysosomal trafficking regulator gene (LYST)
- Need LYST for microtubular sorting of endosomal proteins–> late multivesicular endosomes

Symptoms:

  • Pyogenic infections (defective destruction of bacteria)
  • Partial albinism (can’t transport melanin)
  • Peripheral neuropathy (can’t transport proteins)
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29
Q

Kartagener’s syndrome

A

Dynein (retrograde + –> - microtubule movement) arm defect in cilia

Symptoms:

  • Male infertility (immotile sperm)
  • decreased female fertility
  • Bronchiectasis
  • Recurrent sinusitis
    • Associated with situs inversus (reversed organs)
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30
Q

Osteogenesis imperfecta

A

Type I collagen defect
- Type I collagen= Bone, skin, tendon, dentin, fascia, cornea, wound repair

Pathogenesis:

  • Normal: Glycosylation of pro-alpha-chain hydroxylysine residues, formation of procollagen (H- and S-S bonds)–> triple helix
  • OI= problem with formation of triple helix in Endoplasmic reticulum

Autosomal dominant (incomplete penetrance)

Symptoms:

  • Multiple fractures with minimal trauma
  • Blue sclerae (translucent connective tissue over choroidal vins)
  • Hearing loss (abnL middle ear bones)
  • Dental issues (lack of dentin= type I collagen)
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31
Q

Ehlers Danlos

A

Type III collagen defect
- Type III collagen= reticulin (skin, blood vessels, uterus, fetal tissue, granulation tissue)

  • Normal: Covalent lysine-hydroxylysine cross linkage (by Cu+2- containing lysyl oxidase)–> collagen fibrils
  • Ehlers Danlos= unable to cross link (reinforce tropocollagen triple helix molecules in ECM)
    • Lysyl oxidase requires copper, can be inhibited by sweet pea ingestion

Symptoms:

  • Hyperextensible skin
  • Tendency to bleed (vessel wall defects)
  • Hypermobile joints
  • Can be associated with joint dislocation, berry aneurysms, organ rupture
  • Mitral valve prolapse
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32
Q

Alport syndrome

A

Type IV collagen defect
- type IV collagen= basement membrane, basal lamina of kidneys, ears, eyes

X-linked recessive (boys)

Symptoms:

  • Progressive nephritis
  • Deafness
  • Ocular disturbances
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33
Q

Scurvy

A

Vit C (ascorbic acid) deficiency:

  • Hydroxylation of proline and lysine residues on Collagen (in rough ER) requires ascorbic acid
  • Vit C deficiency–> defective collagen

Features:

  • Malnourished
  • Gingival bleeding
  • Petechiae
  • Ecchymoses
  • Perifollicular hemorrhage
  • Poor wound healing
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34
Q

Southern blot

A

DNA: electrophoresis

  • Filtered on paper
  • Radiolabeled DNA probe anneals to complementary strand
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35
Q

Northern blot

A

RNA: electrophoresis

  • Filtered on paper
  • Radiolabeled RNA probe anneals to complementary strand
  • Useful for studying mRNA
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36
Q

Western blot

A

Protein: electrophoresis

- Labeled antibody binds protein

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37
Q

Southwestern blot

A

DNA-binding proteins (transcription factors)

- ID using labeled oligonucleotide probes

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38
Q

ELISA

A

Enzyme-linked immunoabsorbent assay

  • Indirect= looking for antibodies in patient’s blood (ex: anti-HIV) by adding antigens
  • Direct= looking for the antigen in patient’s blood (ex: HIV particles) by adding antibodies
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39
Q

RNA interference

A

dsRNA complementary to mRNA sequence of interest added to human cells (transfection)
–> dsRNA separates, binds and promotes degradation of target mRNA–> knock down gene expression

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40
Q

Variable expressivity

A

Phenotype varies among individuals with same genotype (ex: NF-1)

  • Heteroplasmy= presence of normal and mutated mtDNA–> variable expression of mitochondrial inherited disease (ex: Ragged red fiber)
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41
Q

Pleiotropy

A

One gene–> multiple phenotypic effects

Ex: PKU–> unrelated symptoms (hair/skin changes, mental retardation)

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42
Q

Imprinting

A

Gene expression depends on whether gene came from paternal or maternal origin

Ex: 15q partial deletion

  • Praeder-Willi= paternal not expressed; maternal 15q partial deletion
  • Angelman= maternal not expressed
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43
Q

Dominant negative mutation

A

Heterozygote produces nonfunctional altered protein–> prevents normal protein function

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44
Q

Linkage disequilibrium

A

alleles at 2 linked loci occur together more often than expected by chance
** measure in population, not family

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45
Q

Achondroplasia

A

AD
Cell-signaling defect of FGF receptor 3
–> dwarfism with normal trunk
- Advanced paternal age

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46
Q

Autosomal dominant polycystic kidney disease

A
  • 85% of cases show mutation in PKD 1 gene on chromosome 16 (40s-50s, worse outcome)
    » Protein = polycystin-1
    – 15% of cases show mutation in PKD 2 gene on chromosome 4 (70s-80s, better prognosis)
    » Protein = polycystin-2 – Both proteins reside in tubular cell cilia
    » Defects affect calcium signaling
    » Mutations result in abnormal renal tubular growth

** associated with polycystic liver disease, berry aneurysms, mitral valve prolapse

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47
Q

Familial adenomatous polyposis

A

AD
Mutations on chrom 5 (APC gene)
- Colon covered in polyps after puberty; colon must be ressected to prevent progression to cancer

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48
Q

Familial hypercholesterolemia (hyperlipidemia type IIA)

A

AD
Defective/absent LDL receptor–> elevated LDL, cholesterol
- Heterozygote: cholesterol= 300
- Homozygote: cholesterol= 700

Severe atherosclerosis, tendon xanthomas
Corneal arcus
MI before age 20

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49
Q

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)

A

AD
Disorder of blood vessels
Telangiectasias, AVM

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50
Q

Hereditary spherocytosis

A

AD
Spectrin or ankyrin defect–> spheroid erythrocytes
- Increased MCHC
- Splenectomy= curative

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51
Q

Huntington’s disease

A

AD
CAG trinucleotide repeat on Chrom 4
- Decreased GABA, Ach in brain

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52
Q

Multiple endocrine neoplasias (MEN)

A

AD
MEN1= pituitary, pancreatic, parathyroid tumor (3 Ps, diamond)

MEN2A= Parathyroid, medullary thyroid, pheochromocytoma (2 Ps, square)
- Defect in ret gene (tyrosine kinase)

MEN2B= Medullary thyroid, pheochromocytoma, oral mucosal neuroma (1 P, triangle)
- Defect in ret gene (tyrosine kinase)

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53
Q

Neurofibromatosis Type 1 (von Recklinghausen’s)

A

AD
Long arm of chrom 17
- Cafe au lait, neural tumors, Lisch nodules, optic pathway gliomas

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54
Q

Neurofibromatosis Type 2

A

AD
NF gene on chrom 22
- Bilateral acoustic Schwanomas, juvenile cataracts

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55
Q

Tuberous sclerosis

A

AD
TSC1, TSC2

Facial lesions: hypopigmented "ash leaf spots"
Coritcal, retinal hamartomas
Seizures, mental retardation
Renal cysts, angiomyolipomas
Cardiac rhabdomyomas
Increased astrocytomas
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56
Q

von Hippel-Lindau

A

AD
Deletion of VHL tumor suppressor gene on Chrom 3p–> continuous HIF expression

  • Hemangioblastomas of retina, cerebellum, medulla
  • Liver cysts
  • Multiple bilateral renal cell carcinomas
57
Q

Cystic fibrosis

A

Autosomal recessive: CFTR gene on Chrom 7 (CFTR channel= ATP-binding cassette transmembrane protein)

Causes:

  1. Deletion of Phe 508–> abnL protein folding–> Cl- channel never reaches cell surface
  2. Premature termination of CFTR protein (Ashkenazi Jews)
  3. Defective ATP binding of transmembrane protein
  4. Impaired Cl- conduction (milder disease)
  5. Fewer active CFTR genes

Features:

  • Thick mucus plugs (decreased Na, Cl secretions in lungs)
  • Pulmonary infections
  • Pancreatic insufficiency
  • Meconium ileus in newborns
  • Bilateral absence of vas deferens
  • Fat soluble vitamin deficiencies (A, D, E, K)

Diagnosis:
- Increased concentration of Cl- ions in sweat test

Treatment:
- N-acetylcysteine: loosens mucus by cleaving disulfide bonds within glycoproteins

58
Q

Fragile X syndrome

A

X-linked defect: methylation and expression of FMR1 gene (CGG trinucleotide repeat)

  • 2nd most common cause of mental retardation after Down’s
  • eXtra large testes, jaw, ears
59
Q

Trinucleotide repeat disorders

A

Fragile X: CGG
Friedreich’s ataxia: GAA
Huntingtons: CAG
Myotonic dystrophy: CTG

60
Q

Down syndrome

A

Trisomy 21

  • 95% due to meiotic nondisjunction of homologous chrom (advanced maternal age)
  • 4% due to Roberstonian translocation
  • 1% mosaics with no maternal assn

Path features:
- Duodenal atresia, ASD, VSD, AV septal defect, early-onset Alzheimer’s

Screening: maternal quad screen:
- Decreased alpha-fetoprotein, estriol
- Increased beta-hCG, inhibin A
Ultrasound: increased nuchal translucency in first trimester (fluid in neck)

61
Q

Edward’s syndrome

A

Trisomy 18

  • Mental retardation
  • rocker-bottom feet
  • small gaw (micrognathia)
  • low set Ears
  • clenched hands
  • congenital heart disease
  • Death after 1 year

Maternal quad scereen:

  • Decreased alpha-fetoprotein
  • decreased beta-hCG
  • decreased estriol
  • normal inhibin A
62
Q

Patau’s syndrome

A

Trisomy 13

  • Mental retardation
  • rocker-bottom feet
  • Mircophthamia, microcephaly
  • Cleft liP/Palate
  • holoProsencephaly
  • Polydactyly
  • congenital heart disease
  • Death after 1 year

Cause:
- Nondisjunction in maternal meiosis I

Pregnancy screen:

  • decreased free beta-hCG
  • decreased PAPP-A
  • Increased nuchal translucency
63
Q

Cri du chat

A

Microdeletion of short arm chrom 5p

Microcephaly, mental retardation

  • High pitched mewing
  • Epicanthal folds
  • VSD
64
Q

Williams syndrome

A

Microdeletion of long arm of Chrom 7 (including elastin gene)

Findings:

  • Elfin facies
  • intellectual disability, good verbal skills
  • Hypercalcemia (increased sensitivity to Vit D)
  • Friendliness
  • CV problems
65
Q

22q11 deletion syndrome

A

Aberrant development of 3rd and 4th pharyngeal pouches
“CATCH-22”
- Cleft palate
- Abnormal facies
- Thymic aplasia–> T-cell deficiency
- Cardiac defects: truncus arteriosus, tetralogy of Fallot
- Hypocalcemia (parathyroid aplasia)

DiGeorge: Thymic, PTH, cardiac
Velocardiofacial: palate, facial, cardiac

66
Q

Fat soluble vitamins

A

Vitamin A (retinol)
Vitamin D (chole/ergocalciferol)
Vitamin E
Vitamin K

  • Overdose possible, accumulates in fat
  • Malabsorption (cystic fibrosis, sprue, gastric bypass)–> deficiency
67
Q

Water soluble vitamins

A

All the Bs + vitamin C
- All wash out easily except B12 (cobalamin) and B9 (folate)–> store in liver

Deficiency: dermatitis, glossitis, diarrhea

68
Q

Vitamin A (retinol)

A

Function:

  • Antioxidant
  • Visual pigments (retinal)
  • Differentiation of epithelial cells–> pancreatic, mucus-secreting cells
  • Prevents squamous metaplasia
  • Treat measles, AML (M3)
  • Found in leafy vegetables, liver

Deficiency:

  • Night blindness
  • Dry skin

Excess:

  • Arthralgias, fatique, H/A, skin changes, sore throat, alopecia
  • Cerebral edema, papilledema (blurred vision)
  • Teratogenic (cleft palate, cardiac anomalies- pregnancy monitoring in isotretinoin tx)
69
Q

Vitamin B1 (thiamine)

A

Function:
Thiamine pyrophospate, cofactor for ATP synthesis:
- Alpha-ketoglutarate dehydrogenase (TCA)
- Transketolase (Pentose-phosphate pathway); see decreased RBC transkelotase activity early in deficiency
- Pyruvate dehydrogenase (glycolysis to TCA)
+ Branched-chain amino acid dehydrogenase

Deficiency:

  • Impaired glucose breakdown–> ATP depletion (worsened by glucose infusion; aerobic tissues- heart and brain- affected 1st)
  • -> Wernicke-Korsakoff (medial dorsal nucleus of thalamus, mamillary body damage)
  • -> Dry beriberi (polyneuritis, symmetrical m. wasting)
  • -> Wet beriberi (dilated cardiomyopathy, edema)
70
Q

Vitamin B2 (riboflavin)

A

Function:
- Cofactor in oxidation, reduction (FADH2, FMN)

Deficiency:

  • Cheliosis (inflammation of lips, scaling, fissures at corner of mouth)
  • Corneal vascularization
71
Q

Vitamin B3 (niacin)

A

Function:

  • Constituent of NAD+, NADP+ (redox reactions)
  • Derived from tryptophan
  • Need B6 to synthesize B3

Deficiency:

  • Glossitis
  • Pellagra (Hartnup disease–> decreased tryptophan OR malignant carcinoid syndrome–> inceased tryptophan metabolism). Pellagra= diarrhea, dementia, dermatitis
  • INH (decreased B6)

Excess:
- Facial flushing (treatment of hyperlipidemia= suppress FFA release from tissue–> decreased VLDL synthesis, more LDL conversion); pre-treat with aspirin

72
Q

Vitamin B5 (pantothenate)

A

Function:
- Component of CoA (cofactor for acyl transfer) and fatty acid synthase

Deficiency:

  • Dermatitis
  • Enteritis
  • Alopecia
  • Adrenal insufficiency
  • Dysesthesias, GI distress
73
Q

Vitamin B6 (pyridoxine)

A

Function:

  1. Converted to pyridoxal phosphate
    - cofactor in transamination–> ALT, AST
    - Decarboxylation reactions
    - Glycogen phosphorylase
  2. Synthesis of cystathionine, heme, niacin, histamine, neurotransmitters (5-HT, epi, NE, GABA)

Deficiency: (INH, oral contraceptives can cause deficiency)

  • Convulsions
  • Hyperirritability
  • Peripheral neuropathy
  • Sideroblastic anemia (first step in heme synthesis; impaired hemoglobin synthesis–> iron excess)
  • Increased endogenous oxaloacetate production (increased calcium oxalate stones); therefore, supplement patient with calcium oxalate stones with B6

** increases metabolism of Levodopa (de-carboxylation)

74
Q

Vitamin B7 (biotin)

A

Function:

  • Cofactor for carboxylation enzymes:
    1. Pyruvate carboxylase (pyruvate–> oxaloacetate)
  • replenish TCA cycle or used in gluconeogenesis
    2. Acetyl-CoA carboxylase (acetyl coA–> malonyl coA)
    3. Propionyl-CoA Carboxylase (propionyl CoA–> methylmalonyl coA)

Deficiency:

  • Caused by antibiotics or excessive raw egg ingestion
  • Dermatitis, alopecia, enteritis
75
Q

Vitamin B9 (Folic acid)

A

Function

  • tetrahydrofolate= coenzyme for 1-carbon transfer/methylation (pyramidine salvage, methionine synthesis)
  • Synthesis of nitrogenous bases in DNA, RNA
  • Found in foliage, stored in liver

Deficiency:

  • Marocytic, megaloblastic anemia
  • Homocysteine elevations (without Methylmalonyl coA elevation)
  • NO neurologic symptoms
  • Seen in alcoholism, pregnancy
  • Caused by phenytoin, sulfonamides, MTX
76
Q

Vitamin B12 (cobalamin)

A

Function:

  • cofactor for homocysteine methyltransferase (methylcobalamin)
  • cofactor for methylmalonyl-coA mutase
  • Animal products, stored in liver

Deficiency:

  • Macrocytic, megaloblastic anemia
  • Hypersegmented PMNs
  • Neurologic symptoms due to abnL myelin: paresthesias, subacute combined degeneration–> prolonged irreversible damage
    • due to malabsorption:
  • lack IF (pernicious anemia (attack parietal cells), gastric bypass)
  • absence of terminal ileum (Crohn’s)
    • Use Schilling test to detect etiology of deficiency:
      1. radio-labeled B12 + IM injection
  • Radio urine= B12 deficiency in diet
    2. radio-labeled B12 + IF
  • Absorption–> urinary excretion
  • No radio detected in urine= absorption problem due to: pancreatic insufficiency (give pancreatic enzymes), intestinal bacterial overgrowth (give antibiotics), ileal disease
77
Q

S-adenosyl-methionine (SAM)

A

ATP+methionine–> SAM

  • Transfers methyl units
  • Dependent on B12 and B9 for regeneration
  • Required for conversion of NE to epi
78
Q

Vitamin C (Ascorbic acid)

A

Function:

  • Antioxidant
  • Facilitates iron absorption: keeps iron in Fe+2 state
  • Hydroxylation of proline, lysine residues in collagen synthesis
  • Dopamine beta-hydroxylase: DA–> NE

Deficiency:

  • Scurvy
  • Weakened immune response

Excess:

  • N/V/D
  • Fatigue, sleep problems
  • Iron toxicity in transfusion pts, hemochromatosis (keeps iron in reduced Fe2+ state)
79
Q

Vitamin D

A 
D2= ergo (plants)
D3= cholecalciferol (milk, skin-produced)

25-OH D3= storage form
1,25-(OH)2 D3= calcitriol, active form (converted by kidneys)

Function:

  • Increased intestinal absorption of calcium, phosphate
  • Increased bone mineralization

Deficiency:

  • Rickets (children), osteomalacia (adults
  • Hypocalcemic tetany

Excess:

  • Hypercalcemia, hypercalciuria
  • Loss of appetite, stupor
    • seen in Sarcoidosis: epithelioid macrophages activate vitamin D via increased 1-alpha-hydroxylase expression)

**Type 1 rickets= 1alpha-hydroxylase deficiency
Type 2 rickets= no Vit D receptors

80
Q

Vitamin E

A

Function:
- Antioxidant (protects erythrocytes and membranes from free radical damage)

Deficiency:

  • Increased erythrocyte fragility
  • Muscle weakness, posterior column and spinocerebellar tract demyelination (like Friederich’s Ataxia

Excess:
- Warfarin + Vit E–> massive increase in INR

81
Q

Vitamin K

A

Function:

  • gamma carboxylation of glutamic acid on Factors II, VII, IX, X, proteins C and S–> blood clotting
    • Synthesized by intestinal flora

Deficiency:

  • Neonatal hemorrhage (increased PT, aPTT, normal bleeding time)
  • Seen in babies, prolonged broad-spectrum antibiotic use (both deficient in intestinal flora)
    • Warfarin= Vit K antagonist (blocks epoxide reductase which converts K2 (inactive) to K1)
82
Q

Zinc

A

Function;

  • Zinc fingers (transcription factor)
  • 100s of enzymes

Deficiency:

  • Delayed wound healing
  • hypogonadism
  • decreased adult hair
  • Dysgeusia (taste weird), anosmia
  • May predispose to alcoholic cirrhosis
83
Q

Ethanol hypoglycemia

A

Alcohol dehydrogenase:
Ethanol + NAD+ –> acetaldehyde+ NADH + H+
- Thus increased ethanol–> increased NADH/NAD+ ratio

NADH > NAD+: need to create NAD+:

  1. Pyruvate converted to lactate
  2. Oxaloacetate converted to malate
    * Both–> inhibited gluconeogenesis, stimulate FA synthesis–> hypoglycemia, fatty liver
    * Overproduction of lactate–> acidosis
    * Oxaloacetate depletion–> shut down TCA–> ketosis
    * Malate excess–> increased NADPH–> FA synthesis
84
Q

Lipoic acid

A

Cofactor for:

  1. Pyruvate dehydrogenase complex
    - Deficiency: backup of substrate–> lactic acidosis
    - Cause: mutation in x-linked gene for E1-alpha subunit of PDH complex
    - Findings: Neurologic defects, in infancy
    - Treatment: ketogenic diet (high fat, Lysine and Leucine= ketogenic amino acids)
  2. Alpha ketoglutarate DH
  3. Branched-chain ketoacid DH
    - Deficiency–> Maple syrup urine disease

** Arsenic inhibits Lipoic acid–> vomiting, rice water stool, garlic breath

85
Q

Glucose transport pumps

A

GLUT-1= insulin independent

  • RBCs, Brain
  • Low Km (enters steadily)

GLUT-2= bidirectional

  • Beta-islet cells
  • Liver, kidney, small intestine (insulin-independent uptake)
  • High Km (proportional to blood [glucose]

GLUT-4= muscle, adipocyte
- Insulin-dependent pump

86
Q

Pyruvate Kinase deficiency

A

RBC maintains structure via:

  • Glycolysis–> ATP to pump out waste products
  • PPP (HMP shunt)–> NADH to reduce methemoglobin

Symptoms:

  1. Hemolytic anemia (#2 cause worldwide)
    - Can’t maintain pumps in membrane without ATP generated by PK
  2. Increased 2,3-BPG–> backup in glycolysis pathway
    - Changes O2 affinity–> decreased affinity (shift O2 curve to right)–> increased exercise tolerance
    - 2,3-BPG kicks O2 off hemoglobin by binding beta heme groups (may have increased exercise tolerance)
  3. No Heinz bodies (vs G6PD deficiency)
87
Q

PFK-2

A

Phosphofructokinase-2= enzyme in LIVER

  • Activated by insulin after HIGH carb meal
  • Produces Fructose 2,6-BP–> reactivates PFK-1 (turned off by excess ATP)
  • Overrides inhibition of PFK-1–> glyolysis continues–> pyruvate–> FA synthesis
88
Q

Tender loving care for Nancy

A

Enzymes requiring:

  • Thiamine
  • Lipoic Acid
  • Co-A
  • FAD (riboflavin= B2)
  • NAD (niacin= B3)
  1. Alpha ketoglutarate dehydrogenase
  2. Pyruvate dehydrogenase
  3. Branched-chain ketoacid DH
89
Q

Electron transport inhibitors

A

Rotenone: Block complex I
Cyanide, CO: block complex IV
Antimycin A: block complex III

  • Inhibit electron transport
  • Cause decrease proton gradient–> block ATP synthesis
90
Q

ATP synthase inhibitors

A

Oligomycin
Block complex V= mitochondrial ATPsynthase
- increased proton gradient–> no ATP produced as electron transport stops

91
Q

Uncoupling agents

A

2,4-DNP, aspirin (fever after aspirin overdose), thermogenin in brown fat (babies)

  • Increases mitochondrial membrane permeability–> decreased proton gradient–> increased O2 consumption
  • **electron transport continues–> HEAT
92
Q

Gluconeogenesis

A

Liver (kidney, intestinal epithelium)

Irreversible:

  1. Pyruvate carboxylase (mitochondria)
  2. PEP carboxylase (cytosol)
  3. Fructose-1,6-BPase (cytosol)
  4. Glucose-6-phosphatase (ER)
    * deficient in vonGierke’s
  • Odd-chain FA–> propionyl coA–> TCA
  • Even chain–> acetyl CoA (no glucose)
93
Q

HMP shunt= pentose phosphate pathway

A

Source of NADPH (not ATP)- needed for reduction (glutathione in RBCs)
Ribose for nucleotide synthesis, Glycolytic intermediates

Sites:

  • RBCs
  • Lactating mammary glands
  • Liver
  • Adrenal cortex (FA or steroid synthesis)

** Requires thiamine

94
Q

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

A

HMP pathway produces inadequate levels of NADPH
- NADPH needed to detoxify free radicals, peroxides

Decreased NADPH–> symptoms:

  • RBC–> hemolytic anemia (poor defense against oxidizing agents= fava beans, sulfonamides, primaquine, anti-TB drugs)
  • Infection–> hemolysis due to inflammatory response (RBCs can’t deal with free radicals generated

X-linked recessive
- Most common human enzyme deficiency (more prevalent in blacks, Mediterranean) d/t increased malaria resistance

Histo:

  • Heinz bodies= oxidized hemoglobin precipitate
  • Bite cells= splenic macrophages phagocytose Heinz bodies from RBCs
95
Q

Essential fructosuria

A

Defect in Frutctokinase
- Autosomal recessive

Benign, asymptomatic
- See fructose in blood, urine

96
Q

Fructose intolerance

A

Defect in Aldolase B
- Fructose-1-phosphate accumulation–> decrease in available phosphate–> inhibit glycogenolysis, gluconeogenesis

Symptoms: presents as baby eats food (not breastmilk)

  • Hypoglycemia
  • Jaundice, cirrhosis
  • Vomiting

Treatment:
- Decrease fructose and sucrose (fructose + glucose) intake

** Phosphofructokinase= rate-limiting step of glycolysis for fructose metabolism. Aldolase B bypasses PFK (thus consumption of fructose activates aldolase B)

97
Q

Galactokinase deficiency

A

Hereditary deficiency of galactokinase
- Galacticol accumulates with galactose consumption

Autosomal recessive
- Milder condition (vs galactosemia)

Symptoms: presents at birth (breastmilk)

  • Galactose in blood, urine
  • Infantile cataracts (fail to track objects/social smile as infant)
98
Q

Classic Galactosemia

A

Absence of Galactose-1-phosphatase uridyltransferase
- Accumulation of galactitol

Autosomal recessive

Symptoms: prevents at birth (breastmilk)

  • Failure to thrive
  • Jaundice, heptomegaly
  • Infantile cataracts
  • mental retardation
  • More serious defects= phosphate depletion

Tx:
- No galactose or lactose (galactose + glucose) in diet

“Fructose is to Aldoase B as Galactose is to Uridyl Transferase= FAB GUT”

99
Q

Sorbitol

A

Aldose reductase converts trapped tissue glucose into sorbitol

  • Sorbitol dehydrogenase then converts sorbitol to fructose
  • Tissues with insufficient sorbitol dehydrogenase (Schwann cells, retina, kidneys)–> excess sorbitol–> osmotic damage

Diabetes= excess glucose–> sorbitol accumulation
- cataracts, retinopathy, peripheral neuropathy (eyes, nerves don’t have as much sorbitol dehyrogenase)

100
Q

Ornithine Transcarbamoylase deficiency (OTC deficiency)

A

Urea cycle enzyme:

  • Excess NH4+–> deplete alpha-ketoglutarate
  • Inhibit TCA cycle

X-linked recessive (baby boys)

Body can’t eliminate ammonia:
- Excess carbamoyl phosphate–> orotic acid–> orotic aciduria, decreased BUN, hyperammonemia

Treatment:

  • Limit protein in diet
  • Benzoate, phenylbutyrate–> bind aa
  • Lactulose to acidify GI tract, trap NH4+–> excretion

Ammonia intoxication (due to liver disease or urea cycle enzyme deficiencies):

  • Tremor (asterixis)
  • Slurring speech, Somnolence
  • Vomiting
  • Cerebral edema, blurred vision
101
Q

Phenylketonuria

A

Causes:

  • Decreased phenylalanine hydroxylase
  • Decreased tetrhydrobiopterin cofactor (malignant phenylketonuria= rare)–> decreased serotonin, DA, NE, epi (tyrosine and tryptophan require BH4 to be converted to neurotransmitters)
  • Increased phenylalanine–> excess phenylketones (phenylacetate, phenyllacetate, phenylpyruvate) in urine
  • Tyrosine NOT synthesized: becomes essential aa

Autosomal recessive
- Screened 2-3 days after birth (normal to miss enzyme at birth as mother supplied it)

Symptoms:

  • Mental, growth retardation
  • Seizures
  • Fair skin, eczema
  • Hypopigmentation of skin, eyes, basal ganglia
  • Mousy body odor

Treatment:

  • NO phenylalanine in diet (aspartame)
  • Increase tyrosine ingestion
  • *Maternal PKU= lacking proper diet during pregnancy
  • Infant: microcephaly, mental retardation, growth retardation, congenital heart defects
102
Q

Alkaptonuria

A

Deficiency of homogentisic acid oxidase

  • Can’t degrade Tyrosine–> fumarate
  • Excess tyrosine–> converted to melanin

Autosomal recessive, benign

Symptoms:

  • Dark connective tissue, brown sclera/ears (ochronosis), urine blackens on air exposure
  • Debilitating arthralgias (homogentisic acid toxic to cartilage)
103
Q

Albinism

A

Deficiency of:

  • Tyrosinase (can’t synthesize melanin from tyrosine): autosomal recessive
  • Tyrosine transporters (decreased tyrosine–> decreased melanin
  • can be due to lack of migration of neural crest cells (piebaldism, Waardenburg syndrome)
  • variable inheritance: locus heterogeneity (vs ocular albinism= x-linked recessive

Lack of melanin–> increased risk of skin cancer

Piebaldism= partial albinism
Waardenburg syndrome –> mongolian spots (blue-gray) due to partial migration toward skin surface

104
Q

Homocysteinuria

A

3 forms (all AR):

  1. Cystathionine synthase deficiency (can’t degrade methionine)
    - Tx: decrease Met, increase Cys, B12, B9 in diet **Cysteine becomes essential aa
  2. Decreased affinitiy of cystathionine synthase for pyridoxal phosphate
    - tx: increased B6 in diet (pyridoxal phosphate)
  3. Homocysteine methyltransferase (needs B12) deficiency

Symptoms:

  • Increased homocysteine in urine
  • Mental retardation
  • Osteoporosis, tall stature, kyphosis
  • Lens subluxation (down and in)
  • Atherosclerosis, AV emboli–> stroke, MI
  • thin hair, fair skin

Labs:

  • Increased serum homocysteine, methionine
  • Homocysteine in urine
105
Q

Cystinuria

A

AR defect in PCT transporter for cystine, ornithine, lysine, arginine
–> cystine precipitation (hexagonal crystals)–> renal staghorn calculi

Tx: hydration, urinary alkalinization

106
Q

Maple syrup urine disease

A

Autosomal recessive
Deceased alpha-ketoacid dehydrogenase
- Blocked degradation of branched amino acids (Ile, Leu, Val)
- Increased ketoacids in blood (Leu)

Symptoms:
- CNS defects, mental retardation, death

“I Love Vermont Maple syrup from branched maple trees”

107
Q

Hartnup disease

A

Autosomal recessive

  • Defective neutral aa transporter on renal, intestinal epithelial cells
  • Tryptophan excretion in urine, decreased intestinal absorption

Pellagra:
- tryptophan synthesizes Niacin (B3)–> deficiency–> diarrhea, dementia, dermatitis

Tx: Niacin supplementation

108
Q

Von Gierke’s disease

A

Type I glycogen storage disease
- Glucose-6-phosphatase deficiency (can’t remove phosphate from glucose to excrete from cell)

Autosomal recessive

Symptoms:

  • Severe fasting hypoglycemia
  • Increased NORMAL glycogen in liver
  • Increased blood lactate
  • Hepatomegaly
  • Hyperuricemia, hyperlipidemia

Glycogen storage diseases: Very Poor Carb Metabolism (VPCM)

109
Q

Pompe’s disease

A

Type II glycogen storage disease
- Lysosomal alpha-1,4-glucosidase deficiency (can’t degrade glycogen within lysosomes)

Autosomal recessive

Symptoms:

  • Cardiomegaly (Pompe’s trashes the Pump)
  • Systemic findings leading to early death
  • Normal glycogen type, levels
  • NO hypoglycemia

Glycogen storage diseases: Very Poor Carb Metabolism (VPCM)

110
Q

Cori’s disease

A

Type III glycogen storage disease
- Debranching enzyme deficiency (alpha-1,6-glycosidase)= can’t debranch limit dextrans (have 4 or less glucose on 1,6 branch point)

Autosomal recessive

Symptoms:

  • Milder form of VonGierke’s: fasting hypoglycemia, hyperuricemia, hyperlipidemia, hepatomegaly
  • NORMAL blood lactate levels
  • Normal gluconeogenesis (vs Type I)

Glycogen storage diseases: Very Poor Carb Metabolism (VPCM)

111
Q

McArdle’s disease

A

Type IV glycogen storage disease
- Skeletal muscle glycogen phosphorylase deficiency (can’t break down branched glycogen (not limit dextrans))

Autosomal recessvie

Symptoms:

  • Increased glycogen in muscle
  • Painful muscle cramps, myoglobinuria with strenuous exercise (can’t get energy)

Glycogen storage diseases: Very Poor Carb Metabolism (VPCM)

112
Q

Fabry’s disease

A

X-linked recessive
Deficiency of alpha-galactosidase A
- Accumulation of ceramide trihexoside

Symptoms:

  • Peripheral neuropathy
  • Angiokeratomas (papules between umbilicus and knees)
  • CV/renal disease
113
Q

Gaucher’s disease

A

Autosomal recessive (Ashkenazi Jews)
Deficiency of glucocerebrosidase
- Accumulation of glucocerebroside

Symptoms:

  • Hepatomegaly
  • Aseptic necrosis of femur
  • Bone crises
  • Gaucher’s cells (Macrophages deformed)
114
Q

Niemann-Pick disease

A

Autosomal recessive (Ashkenazi Jews)
Deficiency of Sphingomyelinase
- Accumulation of sphingomyelin

Symptoms:

  • Neurodegeneration
  • Hepatosplenomegaly
  • Cherry-red spot on macula
  • Foam cells

“No man picks (Niemann-Pick) his nose with hisphinger (sphingomyelinase)”

115
Q

Tay-Sachs disease

A 
Autosomal recessive (Ashkenazi Jews)
Hexosaminidase A deficiency
- Accumulation of GM2 ganglioside

Symptoms:

  • Neurodegeneration
  • Cherry-red spot on macula
  • Lysosomes with onion skin
  • Abnormal startle reflex with acoustic stimuli

“Tay-SaX lacks heXosaminidase”

116
Q

Krabbe’s disease

A

Autosomal recessive
Galactocerebrosidase deficiency
- Accumulation of galactocerebrosidase, galactosyl-sphingosine

Symptoms:

  • Peripheral neuropathy
  • Developmental delay
  • Optic atrophy
  • Globoid cells
117
Q

Metachromatic leukodystrophy

A

Autosomal recessive
Arylsulfatase A deficiency
- Cerebroside sulfate accumulation

Symptoms:
- Central and peripheral demyelination–> ataxia, dementia

118
Q

Hurler’s syndrome

A

AR
alpha-L-iduronidase deficiency
- Heparan sulfate, dermatan sulfate accumulation

Symptoms:

  • Developmental delay,
  • gargoylism,
  • airway obstruction,
  • corneal clouding,
  • hepatosplenomegaly
119
Q

Hunter’s syndrome

A

X-linked recessive
Iduronate sulfatase deficiency
- Heparan sulfate, dermatan sulfate accumulation

Symptoms:

  • Mild Hurler’s (- corneal clouding)
  • Aggressive behavior

“Hunters see clearly and aim for the X”

120
Q

Hyperchylomicronemia (familial dyslipidemia Type I)

A

AR
- LPL deficiency OR altered Apo C-II

Symptoms:

  • Pancreatitis
  • Hepatosplenomegaly
  • Xanthomas
  • NO increased risk of atherosclerosis (vs familial type IIa)

Labs:
- Elevated chylomicrons, TG, cholesterol

121
Q

Hypertriglyceridemia (familial dyslipidemia type IV)

A

AD
- Hepatic overproduction of VLDL

Symptoms:
- Pancreatitis (exceed albumin binding capacity–> binds to acinar cells and pancreatic capillaries

Labs:
- VLDL, TG elevated

122
Q

Abetalipoproteinemia

A

AR

  • Mutation in microsomal triglyceride transfer protein (MTP) gene
  • Decreased B-48, B-100–> decreased chylomicron, VLDL synthesis/secretion

Symptoms:

  • Neonate with failure to thrive, steatorrhea,
  • Acanthocytosis
  • Ataxia
  • Night blindness

Labs:
- Intestinal biopsy with lipid accumulation in enterocytes

123
Q

Dihydropterin Reductase deficiency

A

Unable to convert BH2—> BH4 (after oxidized by phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase)

  • BH4 deficiency–> decreased production of DA, NE, Epi, Serotonin
  • Increased blood Phe, Tyr (after Phenylketonuria suspected, patient supplemented with Tyrosine, which likewise builds up in blood)
124
Q

Rb protein

A

located on Chrom 13 (RB1)

  • Loss of heterogeneity in patients with one defective Rb–> early manifestations of cancer
  • Retinoblastomas, osteosarcomas
125
Q

Locus heterogeneity

A

Mutations at different loci can produce same phenotype
Ex: Marfanoid habitus seen in Marfan syndrome, MEN2B, homocystinuria
- Albinism

vs: Allelic heterogeneity= different mutations at same locus–> similar phenotypes (DMD vs Becker’s muscular dystrophy)

126
Q

Acyl-CoA dehydrogenase deficiency

A

Inability to synthsize ketone bodies from acetyl Co-A–> acyl coA

  • Presents in first few years of life with any period of starvation (once glycogen stores are depleted)
  • Results in increase in dicarboxylic acids, decreased glucose and ketones in blood
  • Symptoms= N, V, hypoglycemia
127
Q

Neonatal adrenoleukodystrophy

A

Defect in VLCFA metabolism
- Peroxisome defect

Gradual decline in function after normal development in early childhood

128
Q

Bloom syndrome

A

Defect in DNA helicase gene (RecQL3) or base excision repair

  • Photosensitivity, erythema, telangiectasia
  • Short stature
  • Lymphoproliferative and GI malignancies
129
Q

Dopamine hydroxylase deficiency

A

Converts DA to epi, NE

- Deficiency: hypotension, ptosis, nasal congestion, ejaculation problems

130
Q

Pyruvate dehydrogenase deficiency

A

X-linked E1-alpha gene defect in PDH (normally activated in exercise–> TCA cycle)
- Presentation: lactic acidosis, hypotonia

Treatment: increased ketogenic nutrients (high fat, high lysine, leucine intake)

**PDH cofactors: Thiamine (B1), Lipoic acid, CoA (B5), Flavin (B2), Niacin (B3)

131
Q

Friederich’s ataxia

A

Autosomal recessive trinucleotide repeat disorder (GAA on Chromosome 9)
–> mitochondrial function impaired

  1. Cerebellar dysfunction–> ataxia
    - staggering gait, frequent falling, nystagmus, dysarthria
  2. Degeneration of dorsal columns–> loss of position, vibration sensation
    - pes cavus, hammer toes
    - May see DM in 10%

Presents in childhood with kyphoscoliosis

Death due to hypertrophic cardiomyopathy:

  • Arrhthmias
  • CHF
  • Bulbar dysfunction (can’t protect airway)
132
Q

Fomepizole

A

Inhibits alcohol dehydrogenase

- Antidote for methanol, ethylene glycol poisoning

133
Q

Fanconi Anemia

A

AR disease
Defect in base excision repair enzymes
- Hypersensitivity to cross-linking agents
- Excrete proline, hydroxyproline, arginine in urine

Develop cancers: AML (t(15;17), auer rods)

134
Q

Essential Amino acids

A 
Glucogenic= Met, Val, His
Glucogenic/ketogenic= Ile, Phe, Thr, Trp
Ketogenic= Leu, Lys
135
Q

Acidic amino acids

A

Asp, Glu (negative charge at body pH)

136
Q

Basic amino acids

A

Arg, Lys, His
most basic= Arg
His= no charge at body pH

** both Arg, His increased in histones, required in periods of growth

137
Q

Energy in 1 g carb, protein, fat

A 
Protein/Carb= 4 kcal
Fat= 9 kcal
138
Q

Familial Dysbetalipoproteinemia

A

Deficiency in ApoE
- Liver can’t remove remnants

Increased LDL, cholesterol, TG (decreased HDL)

Symptoms:

  • Xanthomas
  • Pancreatitis
  • Premature CAD, PVD

Step 1 Subjects (26 decks)

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