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Biochemistry Flashcards

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1
Q

Von Gierke

A

Fasting Hypoglycemia
Hepatomegaly
Increased Lactase and Uric acid levels
G6 Phosphatase deficiency

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2
Q

Pompe

A

Early death from heart failure
Lysosomal a-1,4-glucosidase deficiency

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3
Q

Cori

A

Deficient a-1,6-glucosidase (debranching) enzyme
Short branches of glycogen, normal lactate
Milder Von Gierke
Limit dextrins

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4
Q

Anderson’s

A

Branching enzyme deficiency
Long chains of glycogen

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5
Q

McArdle’s

A

Myophosphorylase deficiency (skeletal muscle)
Increased muscle glycogen only: cramps
Second Wind phenomenon

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6
Q

Essential Fructosuria

A

Fructokinase deficiency
Excretion of fructose in blood, urine

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7
Q

Fructosemia

A

“fructose intolerance”
Aldolase B deficiency
Kidney and liver damage. Infants.

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8
Q

Galactosemia sequelae

A

Cataracts, retardation, liver damage

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9
Q

Glactokinase deficiency sequelae

A

Cataracts

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10
Q

Cherry-red macula

A

Tay-Sachs
Neimann-Pick

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11
Q

Gargoyle Face

A

Gaucher’s
Hurler’s

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12
Q

Tay-Sachs

A

Hyper-reflexia, developmental delay
“onion skin” lysosomes
Hexosaminidase A deficiency

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13
Q

Sandhoff’s

A

Hexosaminidase A/B deficiency

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14
Q

Gaucher’s

A

Wrinkled tissue Macrophages
Bone Pain
Pancytopenia
Glucocerebrosidase (b-Glucosidase) deficiency

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15
Q

Neimann-Pick

A

Hepatosplenomegaly, Areflexia
Sphingomyelinase deficiency
Foam Cells (lipid-laden MO)

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16
Q

Fabry’s

A

Attacks baby’s kidneys and heart
X-Recessive
a-Galactosidase deficiency
Ceramide Trihexoside accumulation

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17
Q

Krabbe’s

A

Peripheral neuropathy, optic atrophy, globoid bodies
Galactocerebrosidase deficiency
Galactocerebroside and Psychosis accumulate

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18
Q

Metachromatic Leukodystrophy

A

Childhood MS w/ Ataxia, Dementia
Arylsulfatase A deficiency
Cerebroside Sulfate accumulates

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19
Q

Hunter’s

A

NO CORNEAL CLOUDING, milder. Aggressive behavior.
X-recessive
Iduronate Sulfatase deficiency
Accumulation of Heparin and Dermatan Sulfate

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20
Q

Hurler’s

A

Corneal Clouding, worse. Gargoylism.
Alpha-L-Iduronidase deficiency
Accumulation of Heparin and Dermatan Sulfate

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21
Q

Lesch-Nyhan

A

Gout, neuropathy, self-mutilation, dystonia
X-Recessive
Orange-sand crystals in diaper
HGPRT deficiency.

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22
Q

White diaper crystals

A

Excess Orotic Acid

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23
Q

PKU

A

The doesn’t convert to Tor
Aspartame sensitivity, retardation, pale, blond hair, blue eyes, musty odor

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24
Q

MSUD

A

Defective branched aa (Leu, Iso, Val) metabolism
They lead out, makes urine smell.
Defective branched chain alpha keto acid dehydrogenase

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25
Homocysteinuria
Cystathionine synthase or Homocysteine Methyltransferase deficiency Homocysteine doesn't get converted to cysteine Marfanoid body, downward lens dislocation, increased Stroke/MI
26
Cysteinuria
No cysteine reabsorption from defective aa transporter in PCT and GI Cysteine, Ornithine, Lysine, Arginine (cola), Hexagonal (cysteine) stones in urine Dx w/ Urinary cyanide nitroprusside test
27
Pellagra
Niacin (B3) deficiency Dermatitis, Diarrhea, Dementia, Death
28
Hartnup's
No Tryptophan Can't make niacin or 5HT Looks like pellagra except its genetic
29
Leg Bowing
Anterior: neonatal syphillis Lateral: Rickets
30
B6
Transaminase cofactor, Myelin integrity
31
Chromosome 3 pathology
VHL RCC
32
Chromosome 4 pathology
ADPKD (PKD2) Achondroplasia Huntington's
33
Chromosome 5 pathology
Cri du Chat Familial Adenomatous Polyposis
34
Chromosome 6 pathology
Hemochromatosis
35
Chromosome 7 pathology
Williams syndrome CFTR
36
Chromosome 9 pathology
Friedericks Ataxia
37
Chromosome 11 pathology
Wilms tumor b-Globin chain
38
Chromosome 13 pathology
Patau Wilson RB BRCA2
39
Chromosome 16 pathology
APKD (PDK1) a-Globin defects
40
Chromosome 17 pathology
NF1 BRCA1
41
Chromosome 18 pathology
Edward's syndrome
42
Chromosome 22 pathology
NF2 DiGeorge
43
X chromosome pathology
Fragile X Bruton Kleinfelter DMD Lesch-Nyhan Hemophilia A/B Wiskott-Aldrich Fabry Ocular Albinism
44
Autosomal Dominant
vWD, Marfan, Osteogenesis Imperfecta, NF, Osler-Weber-Reunu, Achodroplasia, Tuberous Sclerosis, Hereditary Spherocytosis, HOCM, VHL
45
Immune disorder with low Ca
DiGeorge: Thymus + inf. Parathyroid messing (3rd pouch) Manage with TMP-SMX, Ca, Itraconazole +/- Gancyclovir
46
SCID
ADA deficiency (most common), or X-Linked T and B cell deficient give IVIGs, TMP-SMX, Itraconazole, Gancyclovir BM transplant is standard of care
47
Wiskott Aldrich
WASP mutation, T and B cannot bind X-Recessive Fair skin, Thrombocytopenia, Eczema, Hodgkin Abx, topical steroids, IVIG, platelets
48
Cause of hyper IgM
Decreased T (CD40) - (CD40L) B
49
Brouton's Agammaglobulinemia
Dx 6 mo (when mom's Abs wear off) - 1 year Low B count with poor fxn, All Ig's are low
50
CVID
Late onset (after 1 year) Normal B count but cannot specialize (low plasma cells, Igs)
51
Encapsulated G+
Strep Pneumo
52
Encapsulated G-
Salmonella Klebsiella H Flu PSeudomonas Neisseria Citrobacter
53
Job syndrome
Hyper-IgE (all others decreased) Low INF-y
54
Chronic granulomatous disease
X Recessive, Nitro blue test for dx Catalase + infections (staph, candida, pseudomonas, etc)
55
Chediak-Higashi
Lysosomes slow to fuse with ingested pathogen Lysosomal inclusions on histology Albinism CHS1/LYST gene
56
50S Abx
Macrolides Clindamycin Chloramphenicol Linezolid Streptogrammins
57
30S Abx
Aminoglycosides Tetracyclines
58
Metronidazole MOA
Free radical damage to DNA
59
Rifampin MOA
Inhibits RNA Polymerase, blocking mRNA synthesis
60
Fluoroquinolone MOA
DNA gyrase inhibition
61
Sulfonamide MOA
Folic Acid synthesis and reduction inhibition Blocks PABA to DHF TMP blocks DHF to THF
62
Treat lead poisoning
Succimer
63
Treat cyanide poisoning
Cyanocobalamin
64
Level of evidence by study design
1. RCT / meta-analysis 2. Prospective cohort 3. Retrospective cohort 4. Case series, Cross-Sectional 5. Expert opinion, Case study, examples
65
HMO
Narrow panel of physicians Insurance directly pays physicians Low cost, no out-of-network unless emergency
66
Accountable Care Organization
Multidisciplinary providers for defined patient population Group contractual relationship with insurer
67
Patient Centered Medial Home
Group of PCPs Maybe part of cost savings model
68
Screening Levels
1. Prevent Disease 2. Detect it early 3. Slow / stop disease, prevent complications 4. Prevent unnecessary interventions
69
Treat Homocysteinuria
Supplement B6, B9, B12
70
Aspirin OD
Ringing in ears, seizure, tachypnea, etc Tx w/ HCO3-

Clues (14 decks)

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