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Flashcards in Biochemistry - Diseases - Full Biochem listttttt Deck (82)
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1
Q

Orotic Aciduria

A
  • Inability to convert orotic acid to UMP bc of defect in UMP synthase
  • AR
  • Findings: Increased orotic acid in urine, megaloblastic anemia, FTT. No hyperammonemia (excess ammonia in the blood)
  • Treatment: Oral uridine administration
2
Q

Adenosine Deaminase (ADA) Deficiency

A
  • AR** –> SCID
  • can’t break down Adenine/AMP/ATP (can’t convert Adenosine –> Inosine**)
  • excess ATP and dATP inhibit ribonucleotide reductase by negative feedback (prevents DNA synthesis)
  • Decreased lymphocyte count (accumulation of adenosine is toxic to lymphocytes)
3
Q

Lesch-Nyhan Syndrome

A
  • X-linked Recessive
  • Absence of HGPRT –> defective purine salvage
  • Findings: retardation, self-mutilation, aggression, hyperuricemia, gout, choreoarthetosis (involuntary movements)
4
Q

I-cell (Inclusion Cell) disease

A
  • failure of addition of Mannose6P to lysosome proteins –> enzymes secreted out of cell
  • Findings: Coarse facial features, clouded corneas, restricted joint movement, high plasma level of lysosomal enzymes
  • Often fatal in childhood
5
Q

Chediak-Higashi Syndrome

A
  • Mutation in lysosomal trafficking regulator gene (LYST) - the product is required for the MT dependent sorting of endosomal proteins into late multivesicular endosomes
  • Findings: pyogenic infections, partial albinism (trbls w melanosome trafficking), and peripheral neuropathy
6
Q

Kartagener’s syndrome (primary ciliary dyskinesia)

A
  • Dynein arm defect –> immotile cilia
  • Findings: male infertility, decreased female fertility, bronchiectasis, recurrent sinusitus
  • assoc with situs inversus
7
Q

Osteogenesis Imperfecta

A
  • AD, abnormal type 1 collagen
  • Findings: Multiple fractures, blue sclerae (translucency of the CT over the choroidal veins), Hearing loss (abnl middle ear bones), Dental imperfections (lack of dentin)
8
Q

Ehlers-Danlos Syndrome

A
  • 6 types, inheritance and severity vary
  • AD or AR –> Hyperextensible skin, tendency to bleed (easy bruising), hypermobile joints
  • Assoc with joint dislocation, BERRY ANEURYSMS, organ rupture

common mutations: can’t cross link collagen (decr lysyl-hydroxylysyl bonds), missing pro-collagen peptidase (can’t cleave SS-rich temrinal ends to make collagen insoluble)

9
Q

Alport Syndrome

A
  • Varying gene defects –> abnl type 4 collagen (BM, ears, eyes)
  • Most common: X-linked recessive
  • Progressive hereditary nephritis, deafness
  • May be assoc w ocular disturbance
10
Q

Prader-Willi Syndrome

A
  • Defect in Paternal allele on chr 15 (maternal already imprinted/silenced)
  • Mental retardation, hyperphagia (over eating), obesity, hypogonadism, hypotonia
11
Q

AngelMan’s syndrome

A
  • Defect in Maternal allele (chr 15), paternal allele already imprinted
  • Mental retardation, seizures, ataxia, inappropriate laughter (Angel!)
12
Q

Achondroplasia

A
  • Cell-signaling defect in Fibroblast Growth Factor (FGF) receptor 3 (activating mutation, inhibits chondrocyte proliferation)–> Dwarfism, short limbs, relatively larger head (trunk size is normal)
  • Assoc w advanced paternal age
  • AD
  • homozygous? die in utero/shortly after birth
13
Q

AD Polycystic Kidney Disease (ADPKD)

A
  • AD
  • massive enlargement of BL kidneys, multiple large cysts
  • Findings: flank pain, hematuria, HTN, progressive renal failure
  • 85%: mutation in PKD1 (chr 16)
  • Assoc w polycystic LIVER disease, BERRY ANEURYSMS, MITRAL VALVE PROLAPSE*
  • Inftanile form: AR

(kidney cysts look like BERRYs!)

14
Q

Familial adenomatous polyposis

A
  • AD
  • Mutations on chr 5 (five letters in ‘polyp’)
  • Colon becomes covered w adenomatous polyps after puberty –> colon ca unless colon is resected

(F –> Five, A –> APC, P –> Polpyposis)

15
Q

Familial hypercholesterolemia (hyperlipidemia type IIA)

A
  • AD
  • Defective or absent LDL receptor –> elevated LDL
  • Heterozygotes (1:500) have cholesterol ~300 -Homozygotes (very rare) cholsterol >700, severe atherosclerotic disease early in life, and achilles tendon xanthomas, MI may develop <20 yrs
16
Q

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome)

A
  • AD
  • Disorder of blood vessels
  • Findings: telangiectasia, recurrent nose-bleeds/epistaxis, skin discolorations*, AV malformations*

(can be in skin, mucous membranes, GI, respiratory tract, urinary tract (epistaxis, GI bleeds, hematuria)

17
Q

Hereditary Spherocytosis

A
  • AD
  • spectrin or ankyrin defect –> spheroid erythrocytes
  • hemolytic anemia, increase MCHC*** diagnostic (relatively incr hgb concentration due to smaller rbcs)
  • Rs: Splenectomy
18
Q

Huntington’s disease

A
  • AD
  • Findings: depression, progressive dementia, choreiform mvmts, CAUDATE ATROPHY, decreased levels of GABA and ACh in the brain
  • Sxs manifest between 20-50
  • Gene located on chr 4
  • Trinucleotide repeat disorder (CAG)

CAG4

19
Q

Marfan’s syndrome

A
  • AD
  • Fibrillin-1 gene mutation –> CT disorder affecting skeleton, heart, and eyes
  • Findings: tall w long extremities, pectus excavatum, hypermobile joints, long, tapering fingers and toes (arachnodactyly), scolosis and/or Kyphoscoliosis

–> cystic medial necrosis of aorta –> aortic incompetence and dissecting aortic aneurysms, Berry aneurysm*

–> Floppy mitral valve/MVP**

  • Subluxation of lenses
  • death by conduction defects (more common than aortic dissection)
20
Q

Multiple endocrine neoplasias (MEN)

A
  • AD
  • Type 1: Pituitary, Parathyroid, Pancreas
  • Type 2: Medullary thryoid ca., Parathyroid, Pheo’s
  • Type 3: Marfinoid habitus, medullary thyroid cancer, oral nodules, Pheo’s
  • MEN 2A and 2B ~ ret gene
21
Q

Neurofibromatosis type 1 (von Recklinghausen’s disease)

A
  • AD
  • Findings: cafe-au-lait spots (inguinal/axial freckles), neurofibromas, Lisch nodules (pigmented iris hamartomas)
  • Also skeletal disorders (e.g. scoliosis)
  • optic gliomas (assoc w meningiomas as well)
  • on long arm of chr 17
  • 100% penetrant, variable expression*
22
Q

Neurofibromatosis type 2

A
  • AD
  • Bilateral acoustic schwannomas, juvenile cataracts
  • NF2 gene on chr 22
23
Q

Tuberous sclerosis

A
  • AD
  • HAMARTOMAS: in CNS and skin
  • Adenoma sebaceum (cutaneous angiofibromas)
  • Ash leaf spots
  • cardiac Rhabdomyoma**, mitral regurg
  • Mental retardation, seizures
  • renal Angiomyolipoma**
  • Incomplete penetrance, variable presentation
24
Q

von Hippel-Lindau disease

A
  • AD -Findings: HEMANGIOBLASTOMAS of retina/cerebellum/medulla, PHEOS
  • Majority develop multiple bilateral RENAL cell carcinomas and other tumors
  • cavernous hemangiomas in skin, mucosa, organs.
  • Assoc w deletion of VHL gene (tumor suppressor) on chr 3 (3p) - nl inhibits HIF (hypoxia inducible factor)–> Results in constituitive expression of HIF (TF) and activation of angiogenic growth factors

VHL = VMA (pheo), Hemangioblastomas, renaL. 3 letters = chr3

25
Q

Cystic Fibrosis

A
  • AR
  • defect in CFTR (normally actively secretes Cl- in lungs and GI tract, actively reabsorbs Cl- from sweat AND INHIBITS NA+ REABSORPTION)
  • abnormally thick mucus (plugs lungs, pancreas, liver)
  • pancreatic insufficiency (malabsorption and steatorrhea - excess fat in feces)
  • nasal polyps, meconium ileus in newborns
  • mutation causes abnl protein folding –> degradation of channel BEFORE reaching cell surface
  • Infertility of males due to bilateral ABSENCE of vas deferences
  • Fat-soluble vitamin deficiencies (A,D,E,K)
  • Rx: N-acetylcysteine to loosen mucus plugs (cleaves S-S bonds within mucous glycoproteins)
26
Q

Duchene’s

A
  • X-linked frameshift mutation –>deletion of dystrophin gene –> accelerated muscle breakdown
  • Starts pelvic girdle mm –> progresses superiorly
  • Pseudohypertrophy of calf muscles (fibrofatty replacement of mm), cardiac myopathy
  • Gower’s maneuver +
  • Onset before age 5
  • Diagnose: Increased CPK (muscle breakdown), muscle biopsy
27
Q

Becker’s

A
  • X-linked mutated dystrophin gene
  • Less severe than Duchene’s (so onset later)
  • Onset in adolescence or early childhood
28
Q

Fragile X syndrome

A
  • X-linked defect
  • Trinucleotide repeat: CGG
  • affected: methylation and inexpression of FMR1 gene
  • 2nd most common cause of genetic mental retardation
  • Findings: macroorchidism, long face w large jaw, large everted ears, AUTISM, MITRAL VALVE PROLAPSE**

“Xtra large testes, ears, jaw, Mitral valve, Xtra CGG, and Xtra ANAL (kinda like autism?)”

29
Q

Down Syndrome

A
  • Trisomy 21
  • Findings: Mental retardation, flat facies, prominent epicanthal folds, simian crease (hand-line), gap btwn toes 1-2, duodenal atresia, ASD
  • Incr risk of ALL, Alzheimers (>35 yrs)
  • 95% due to nondisjxn (advanced M age)
  • 4% due to Robertsonian translocation
  • 1% due to Down mosaicism
  • Most common cause of genetic mental retardation
  • Screening: incr B-Hcg, inhibinA, nuchal translucency. Decr AFP and estriol
30
Q

Edwards’ Syndrome

A
  • Trisomy 18
  • Findings: severe mental retardation, rocker-bottom feet, micrognathia (small jaw), low-set ears, CLENCHED HANDS, prominent occiput, CHD
  • death w/in 1 yr
  • Screening: Decr AFP, B-hCG, estriol. NORMAL inhibin A
31
Q

Patau’s syndrome

A
  • Trisomy 13
  • Findings: severe mental retardation, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosenecephaly, polydactyly, CHD, umbilical hernia, ompahlocele (abdml wall defects)
  • Death w/in 1 yr
  • Screening: Decr free B-hCG (like trisomy 18), decr PAPP-A**. Incr nuchal translucency
32
Q

Cri-du-chat syndrome

A
  • Microdeletion of short arm of chr 5 (5p-)
  • Findings: microcephaly, mod-severe mental retardation, high-pitched crying/mewing, epicanthal folds, VSD

5 cats jumping through a VSD

33
Q

Williams Syndrome

A
  • Microdeletion of chr 7q (includes elastin gene)
  • Findings: “elfin” facies, intellectual disability, hypercalcemia (incr sens. to vit D**), well-developed verbal skills, extreme friendliness, CV problems

(William the Friendly Elf like MILK/Ca2+ and 7 cookies)

34
Q

22q11 deletion syndromes

A
  • Microdeletion at 22q11
  • Aberrant development of 3rd and 4th branchial pouches
  • Findings variable: Cleft palate, Abnl facies, Thymic aplasia –> T-cell deficiency, Cardiac defects, Hypocalcemia 2ndary to parathyroid aplasia
35
Q

DiGeorge syndrome

A
  • 22q11 syndrome
  • Findings: Thymic aplasia, Parathyroid aplasia, Cardiac Defects (persistent TRUNCUS arteriosus, Tetralogy of Fallot, Interrupted aortic arch**)
36
Q

Velocardiofacial Syndrome

A
  • 22q11 syndrome
  • Findings: Cleft palate, Abnl facies, Cardiac Defects
37
Q

Kwashikor

A
  • Protein malnutrition –> skin lesions, edema, anemia, liver malfxn (fatty change <– decr apolipoprotein synthesis)
  • Small child, swollen belly
38
Q

Marasmus

A

-Energy/calorie malnutrition –> tissue/muscle wasting, loss of SC fat, variable edema

39
Q

Essential Fructosuria

A
  • Defect in Fructokinase (Fructose –> Fructose 1P)
  • AR
  • Benign, asxs condition (fructose not trapped in cells)
  • Fructose in blood/urine (milder sxs than disorders of galactose metabolism)

“Essentiall normal/not a big deal”

40
Q

Fructose intolerance

A
  • Defic of Aldolase B
  • AR
  • F1P accumulates –> decr in available phosphate –> inhibition of glycogenolysis and gluconeogenesis = hypoglycemia, esp right after eating
  • Sxs: hypoglycemia, jaundice, cirrhosis, vomiting, hepatomegaly*
  • Rx: decr intake of fructose and sucrose (glucose + fructose)

FAB-GUT (Frucose intolerance: Aldolase B; Classic Galactosemia: Uridyltransferase)

41
Q

Galactokinase deficiency

A
  • Defic of Galactokinase (~Essential fructosuria)
  • AR
  • Galactitol accum
  • Sxs: (mild) Galactose in blood/urine, infantile CATARACTS (present: failure to track objects/develop social smile)
42
Q

Classic Galactosemia

A
  • Absence of Galactose-1-Phosphate Uridyltransferase (Galactose-1-P –> UDP-Galactose)
  • AR
  • Accum of toxics (Galactitol –> lens of eye)
  • Sxs: FTT, jaundice, hepatomegaly, infantile cataracts, MR (see signs RIGHT after breastffeding started**i.e. neonate)
  • Rx: exclude galactose and lactose (galactose+glucose) from diet

FAB-GUT (Fructose intolerance:Aldolase B, Classic Galactososemia:Uridyl-transferase)

43
Q

Lactase Deficiency

A
  • Age-dependent and/or hereditary loss of Lactase
  • May follow gastroenteritis
  • African americans, Asians

Sxs: bloating, cramps, osmotic diarrhea

-Rx: avoid dairy, use lactase pills

44
Q

Hyperammoniemia

A
  • Acquired (liver ds) or hereditary (Urea cycle enzyme deficiencies) –> excess NH4+ –> depletes alpha-ketoglutarate (alphaKG + NH3 –> Glutamate) –> inhibition of TCA cycle
  • Rx: limit protein in diet, Benzoate or Phenylbutyrate (bind aa –> urinary excretion), Lactulose
  • Ammonia intoxication: Tremor (asterixis), slurred speech, somnolence, vomiting, cerebral edema, blurring of vision
45
Q

Ornithine transcarbamoylase deficiency

A
  • X-linked recessive (most common urea cycle ds) –> can’t elim ammonia
  • Sxs: first few days of life, may be late onset
  • Excess carbamoyl phosphate –> orotic acid
  • See orotic acid in blood/urine, decr BUN, sxs of hyperammonemia
46
Q

Phenylketonuria (PKU)

A
  • Decr Phenylalaline Hydroxylase or decr Tetrahydrobiopterin cofactor (malignant PKU).
  • Tyroskine becomes essential
  • incr phenylalanine –> excess phenylketones in urine (Phenyl-/acetate/lactate/pyruvate)
  • AR

Sxs: MR, growth retardation, seizures, fair skin, pallor of the BASAL GANGLIA, eczema, musty body odor

NB excess phenylalanine inhibits tyrosinase –> decr melanin –> fair color (think also fair BASAL GANGLIA)

-Rx: decr pheynlalanine (aspartame) and incr tyrosine in diet

47
Q

Maternal PKU

A
  • lack of proper dietary therapy during pregnancy
  • Findings in infant: Microcephaly, MR, growth retardation, congenital heart defects
48
Q

Alkaptonuria (Ochronosis)

A
  • Defic of homogentisic acid oxidase (in degradative pathway of tyrosine –> fumarate)
  • AR
  • Benign sxs: dark CT, brown pigmented sclera, black urine on prolonged exposure to air (shit gets DARK)
  • May have debilitating ARTHRALGIAS when older (homogentisic acid toxic to cartilage)
  • homogentisic acid = “Alkapton”

(AL got KAPPED - ie everything is dark, and it’s hard to move/arthralgias)

49
Q

Albinism

A
  • Defect in Tyrosinase (AR) –> inability to synthesize melanin from tyrosine
  • OR Defective Tyrosine transporters (decr tyrosine and thus melanin)
  • Can result from lack of neural crest cell migration
  • Incr risk skin cancer
  • Variable inheritance due to locus heterogeneity (vs. ocular albinism - X-linked recessive)
50
Q

Homocystinuria (the tall old witch!!)

A
  • 3 forms, all AR
  • 1) Cystathionine synthase defic (Rx: decr Met, incr Cys/B12/folate)
  • 2) decr affinity of Cystathionine synthase for pyridoxal phosphate (Rx: Incr vit B6)
  • 3) Homocysteine methyltansferase (requires B12) defic –> Excess homocysteine, Cysteine becomes essential
  • sxs: Incr homocysteine in urine, MR, osteoporosis, marfanoid habitus**, atherosclerosis/MI at young age*
51
Q

Cystinuria

A
  • Defect of renal tubular aa transporter for cysteine/ornithine/lysine/arginine in PCT of kindey
  • AR
  • Exces cystine (CysteineS-Scysteine) –> ppt of hexagonal crystals and renal staghorn calculi
  • Rx: hydration, urinary alkalinization
52
Q

Maple syrup urine ds

A
  • Blocked degradation of branched aa (Ile, Leu, Val) <– low alpha-ketoacid dehydrogenase (B1)
  • See incr alpha-ketoacids in blood, esp Leu
  • Sxs: severe CNS defects, MR, death
  • AR
53
Q

Hartnup ds

A
  • AR
  • Defective NEUTRAL aa transporter on renal/intestinal epithelial cells –> Tryptophan excretion in urine, decr absorption from the gut –> Pellagra
54
Q

Von Gierke’s ds (type 1)

A
  • Defic Glucose-6-Phosphatase
  • sxs: severe fasting hypoglycemia, incr glycogen in liver–>hepatomegaly (can’t break it down), incr blood lactate (convert pyruvate to lactate for energy)
  • growth retardation, hyperlipidemia, hyperuricemia
  • AR

It’s #1 because it’s the worst of the glycogen storage diseases! MOST LACTATE in the blood! LOWEST hypoglycemia!

55
Q

Pompe’s ds (type 2)

A
  • Defic Lysosomal alpha-1,4-glucosidase (acid maltase)
  • Sxs: Cardiomegaly, systemic findings –> early death ; glycogen accum in lysosomes –> hepatomegaly
  • no hypoglycemia (not really that big of a deal, side pathway)
  • macroglossia, hypotonia, MR
  • AR

Pompe’s is in Creten History (C - cardiac, H - hepato. C+H = 2 so type 2!)

56
Q

Cori’s ds (type 3)

A
  • Defic debranching enzyme (alpha-1,6-glucosidase)
  • Sxs: Milder form of Von Gierke’s ds w NORMAL BLOOD LACTATE levels
  • AR
  • Glucogenesis is intact

It took Mild mannered Cori 3 types to Debranch the tree in his back yard

57
Q

McArdle’s ds (type 5)

A
  • Defic skeletal muscle Glycogen Phosphorylase
  • Sxs: Incr glycogen in muscle, but can’t break it down –> painful muscle cramps, myoglobinuria w strenuous exercise
  • AR

M for muscle. a 5K is a good racing distance to run!

58
Q

Fabry’s ds

A
  • Lysosomal storage dz
  • Defic alpha-Galactosidase A
  • Accum Ceramide trihexoside
  • X-linked Recessive
  • Sxs: Peripheral nueropathy in hands/feet, angiokeratomas, cardiovascular/RENAL ds**
  • angiokeratomas: dark, red, non-blanching macules/papules that occur on the umbilicus and knees

Tell me a Fable about a galactic XWing made of Ceramic and Skin, shooting a Kidney

59
Q

Gaucher’s ds

A
  • Defic Glucocerebrosidase
  • Accum Glucocerebroside
  • AR
  • Most common lysosomal storage ds*
  • sxs: Hepatosplenomegaly, aseptic necrosis of femur, bone crises
  • Gaucher’s cells: macrophages, look like crumpled tissue paper

(tissue paper cells? how very french. and the french arent’ athletes, so they have bad bones and FAT livers. Also french peope like sweets, so GLUCOcerebrosidase)

60
Q

Niemann-Pick ds

A
  • Defic Sphingomyelinase
  • Accum Sphingomyelin
  • AR
  • Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Niemann Picks his nose with his SPHINGer and eats his cherrries on his Foamy milshake which give him a FAT liver. Also picking his nose? what a dummy! –> Progressive neurodegeneration.

61
Q

Tay-Sachs ds

A
  • Lysosomal storage: Defic Hexosaminidase A
  • Accum GM2 ganglioside
  • AR
  • Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes w onion skin***, macrocephaly*** from glycolipid accum in brain, “startles easily w loud noises”
  • no hepatomegaly (vs Niemann-Pick) + lysosomal onion skinning

Tay saXs (heXosaminidase)

Tay Tay, with big head, drives a GM2 car to pick up onions

62
Q

Krabbe’s ds

A
  • Defic Galactocerebrosidase
  • Accum Galactocerebroside (destroys myelin)
  • AR
  • Peripheral neuropathy, developental delay, optic atrophy, Globoid cells

Krabbe’s= Crab’s spaceship: the Galactocerebroside. gobble things up = globoid cells

63
Q

Metachromatic leukodystrophy

A
  • Defic ArylSULFAtase A
  • Accum Cerebroside SULFATE
  • AR
  • Central and peripheral demyelination w ataxia, dementia (ML sounds like MS: Demyelination)

“Meta nice chrome dude, wanna go SULF the waves later? Aryl me later, see you on the Cerebroside”

64
Q

Hurler’s syndrome

A

Mucopolysaccharidosis type 1 (lysosomal enzyme def)

  • Defic Alpha-L-Iduronidase
  • Accum Heparan sulfate, dermatan sulfate
  • AR
  • Developmental delay, gargoylism*, airway obstruction, corneal clouding*, hepatosplenomegaly
65
Q

Hunter’s syndrome

A
  • Defic Iduronate sulfatase
  • Accum Heparan sulfate, dermatan sulfate
  • XR
  • Mild Hurler’s + aggressive behavior, no corneal clouding*

Hunters need to SEE (no corneal clouding) and are aggressive bc they kill shit and aim for the X

66
Q

Carnitine deficiency

A
  • inability to transport LCFAs into mito –> toxic accum (carnitine shuttle!)
  • sxs: weakness following exercise, hypotonia, hypoketotic, hypoglycemia (can’t break down FA to make ketones or glucose), elevated muscle triglycerides

Citrate = sytrate = synthesis (citrate shuttle moves citrate into cytosol –> acetyl-CoA for FA synthesis)

Carnitine = carnage of fatty acids (carnitine moves acyl CoA into mito for beta-ox to ketones and TCA cycle)

67
Q

Acyl-CoA dehydrogenase deficiency

A

(enzyme used in beta oxidation of fatty acids)

–> Incr dicarboxylic acids (malonic, succinic, etc)

-hypoglycemic, hypoketotic (can’t break down FA to make ketones/ATP)

Seen after PROLONGED fast (upwards of 12 hours)

68
Q

I-Hyperchylomicronemia

A
  • Incr blood levels: Chylomicrons, TG, cholesterol
  • AR** (unlike type 2a and 4 = AD)
  • Lipoprotein Lipase defici or altered apolipoprotein C-II (cofactor for LPL) –> Pancreatitis*, hepatosplenomegaly, eruptive/pruritic xanthomas
  • no incr risk of atherosclerosis (unlike type 2a)
69
Q

IIa-Familial Hypercholesterolemia

A
  • Incr blood levels: LDL, cholesterol
  • AD
  • Absent of decr LDL receptors –> accelerated atherosclerosis, tendon (Achilles) xanthomas, corneal arcus (white ring around the eye)
70
Q

IV-Hypertriglyceridemia

A
  • Incr blood levels: VLDL, TG
  • AD
  • Hepatoc overproduction of VLDL –> Pancreatitis**
71
Q

Abetalipoproteinemia

A
  • AR
  • Mutation in microsomal TG transfer protein (MTP) gene –> Low B-48 and B-100 –> low chylomicron and VLDL synthesis and secretion
  • Sxs in first few mo. of life
  • Lipid accumulation within enterocytes (can’t export)
  • Sxs: FTT, steatorrhea, ACANTHOCYTOSIS (spur cells), ataxia, night blindness (loss of vit A)
72
Q

Pyruvate dehydrogenase complex deficiency

A
  • X-linked gene mutation of E1-alpha subunit of PDC –> backup of substrate (pyruvate and alanine) –> lactic acidosis
  • Sxs: neurologic defects, starts in infancy
  • Rx: Incr intake of ketogenic nutrients (e.g. high fat content or incr lysine/leucine)
73
Q

Sorbitol accumulation

A
  • Glucose –> Sorbitol (by Aldose Reductase)
  • Sorbitol –> Fructose (by Sorbitol Dehydrogenase)
  • Not enough Sorbitol Dehydrogenase or don’t have it? then accum of Sorbitol

(tissues that don’t have sorbitol dehydroganse: Retina, Schwann cells, Kidneys)

  • Sxs (osmotic damage): Cataracts, Retinopathy, Peripheral neuropathy
  • seen w chronic hyperglycemia/diabetes (so much glucose in the blood that your body stores it in cells as sorbitol)
74
Q

Arginase Deficiency

A

–> spasticity

75
Q

Hemophilia A or B

A

X-linked recessive

76
Q

Xeroderma Pigmentosum

A
  • error in Nucleotide Excision repair
  • AR
  • Early: erythema, scaling, subsequent hypERpigmentation
  • Highly susceptible to skin malignancies “children of the night”
77
Q

Hypophosphatemic Rickets

A
  • X-linked DOMINANT
  • Incr phosphate wasting at Proximal Tubule –> Rickets-like presentation
78
Q

Deficiency of Vitamin B6 (Pyridoxine) induced by…

A

INH and OCP –> Peripheral neurophathy

Also sideroblastic anemia (impaired heme synthesis) and iron excess

79
Q

Congenital Hypothyroidism

A

Macroglossia, hypotonia, constipation, UMBILICAL HERNIA, myxedema, pale-cool-dry skin, incr incidence of ASD and VSD

80
Q

Ataxia Telangiectasia

A

F’ed up Non-homologous End Joining (repair of ds DNA breaks)

81
Q

Pyruvate dehydrogenase complex deficiency

A

-back up of substrate (pyruvate and alanine)

–> Lactic acidosis

  • most cases are due to mutations in X-linked gene for E1-alpha subunit of the PDC
  • rx: incr intake of ketogenic nutrients (lysine and leucine)
82
Q

XLR mneumonic

A

Be Wise, Fool’s GOLD Has Highly Active Ore

Bruton’s, Wiskott-Aldrich, Fabry’s, G6PD, Ocular albinism, Lesch-Neyan, Duchenne’s (and Becker’s), Hemophilia (A and B), Hunter’s, Alport (ususally), OTC deficiency