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2nd Time Through > Biochem Dzs > Flashcards

Biochem Dzs Flashcards

1
Q

Course facial features, cluded corneas, restricted joint movement and high plasma levels of lysosomal enzymes? Cause? Prognosis?

EM findings?

A

I-cell dz. No mannose-6-phosphate added in golgi. Fatal in childhood.

Many vaculoes

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2
Q

Recurrent pyogenic infections, partial albinism and peripheral neuropathy. Mutation? Histo?

A

Chediak-Higashi. Mutation in mucrotubule polymerization. From LYST mutation (lysosomal trafficking receptor).

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3
Q

Pt with hyperextensible skin, easy bleeding, hypermobile joints. Can lead to what severe problems?

A

Ehlers Danlos. Defect in type 1 or 4 collagen. Berry aneurysms and organ rupture

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4
Q

Pt with nephritis, deafness and vision disturbances? Defect in?

A

Alport syndrome. Defect in collage type 4.

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5
Q

child with mental retardation, hyperphagia, obesity, hypogodadism, hypotonia. Defect?

A

Prader-Willi. Parental allel not expressed (“need dad for balls”)

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6
Q

Mental retardation, seizures, ataxia, inappropriate laughter?

A

Angelmans (materal allele not expressed)

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7
Q

Rickets like with phosphate wasting at PCT. heredity?

A

Hypophosphatemic rickets. X-linked dominant

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8
Q

Red ragged fibers?

A

Mitochondrial Dz

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9
Q

ADPKD. chromosome?

A

16

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10
Q

Familail adenomatous polyposis. chromosome?

A

5

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11
Q

Pt with tendon xanthomas and MI before 20?

A

Familial hypercholesterolemia

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12
Q

telangiectasia, epistaxis, ateriovenous malfomations?

A

Osler weber rendu

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13
Q

decreased GABA and ACh in brain.

  • chromosome?
A

Huntingtons. 4

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14
Q

darkened iris harmartomas in eyes? Chromosome?

A

Lich nodules - NF1. chromosome 17

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15
Q

Bilateral acoustic schawnomas - chromosome?

A

NF2. 22

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16
Q

Angiomyolipomas in kidney, retinal hamartomas, facial lesions?

A

Tuberous sclerosis

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17
Q

Hemangiomas and bilateral renal cell carcinomas?

A

VHL

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18
Q

X-linked recessive disorders?

A 
Be Wise, Fool's GOLD Heeds silly HOpe
Brutons agammaglobulinemia
wiskott-aldrich
fabry's
G6PD
Ocular albinism
Lesch0Nyhan
Duchennes/Beckers
Hunters
Hemophilias
OTC deficiency
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19
Q

Phe 508 deletion. Chromosome?

A

CF. 7

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20
Q

Child with increased in CPK. Check for?

A

muscular dystrophy

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21
Q

Large testies, ears, jaw. gene? Heart problem?

A

Fragile X. FMR1. MVP

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22
Q

trinucleotide repeats? (repeat and chromosome)

A 
X-Gfs First Aid Helped Ace My Test
Fragile X - cGg
Friedreich's ataxia - GAA (chromosome 9)
huntingtons - cAg - 4
Myotonic dystrophy - cTg - 19
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23
Q

Myotonic dystrophy. Problem with what protein?

A

My-D protein kinase

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24
Q

amniotic fluid show decreased aFP and estriol and increased B-HCG and inhibin A. 2 Causes?

A

Down syndrome. Trisomy 21 and robertsonian translocation

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25
Q

Down a-FP, B-HCG, estriol

normal inhibin A.

A

edward’s syndrome - trisomy 18

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26
Q

Down B-HCG, down PAPP-A. Sx?

A 
Patau's (trisomy 13). 
cleft-Palate
holoProcencephaly
Polydactyly 
CycloPs
PDA
PKD
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27
Q

Crying/mewing child, epicanthal folds. Defect? Heart?

A

deletion of short arm of 5. VSD

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28
Q

bad development of 3rd and 4th pouch?

A 
Digeorges and velocardiofacial.
CATCH-22
Cleft lip
abnormal facies
thymic aplasia
Cardiac defects
HypoCa

chromosome 22q11 deficiency

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29
Q

Edema, anemia, asities from malnutrition?

A

Kwashiokor

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30
Q

Muscle wasting, edema from malnutrition?

A

marasmus

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31
Q

Anosmia and no secondary sex characteristics. Defect?

A

Kallman syndrome. GnRH secreting cells do not migrate to proper location in hypothalamus. (no GnRH secretion)

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32
Q

Cystic hygroma?

A

neck mass consisting of lymphocytes and connective tissue found in turner’s

33
Q

Increased lactate in blood. Lethargic, seizures, mental retardation? Genetics?

A

Pyruvate dehydrogenase deficiency. X-linked Dominant

34
Q

Vomiting, rice water stools and garlic smelling breath? Mech?

A

Arsenic poisoning. Inhibits lipoic acid (and pyruvate dehydrogenase). Can also block B1 and resemble beriberi.

35
Q

Child with ataxia, abnormal eye movements. Increased lactic acid?

Special diet?

A

Pyruvate dehydrogenase

Only ketogenic AAs (leucine and lysine)

36
Q

Child with exercise intolerance, muscle craps and burgundy urine?

A

Tarui (decreased phosphofructokinase 1)
or
McArdle’s

37
Q

Pt with hypoglycemia, jaundice, and vomiting after drinking juice? Deficiency in what enzyme?

A

Fructose intolerance. Aldose B

38
Q

Infant has trouble tracking objects and doesn’t smile. Increased sugar in urine. Deficiency?

A

Galactokinse deficiency

39
Q

Infant with cateracts, PO4 depletion,

also failure to thrive, jaundice, hepatomegaly,? Deficiency?

A

Classic galactosemia. Galactose-1-P uridyltransferase

40
Q

Child with exzema and musty odor, retardation, seizures. Diet?

A

PKU. No Phe

41
Q

Infant with microcephaly, mental retardation, congenital heart defects. If due to maternal nutritional defect, cause?

A

Maternal PKU

42
Q

Brown sclera, urine turns black. Cause?

A

Alkaptonuria. Buildup ot homogentisic acid because improper tyrosine breakdown

43
Q

Albinism - causes?

A

1 defect in tyrosinase
2 defective tryosine transporters
3 bad neural crest migration

44
Q

Tall Pt with downward and inward gaze, history of stroke and MI, mental retardation. Causes?

A

homocystinuria

  1. Cytathionine synthase deficiency
  2. decreased affinity for B6
  3. B12 deficiency
45
Q

Cystinuria?

A

defect in transporter for cyseine, ornithine, lysine, arginine. Risk of stones

46
Q

Pt with pellegra. W in urine?

A

Hartnup. Defective W absorption in PCT and gut

47
Q

Hepatomegaly, lactate in blood, xanthomas, seizures, severe hypoglycemia. Defect?

Can also develop?

A

Von Gierke’s disease. Glucose-6-Phosphatase

Gout/hyperurecimia and platelet dysfunction

48
Q

Doll’s face. Tx?

A

Von Gierke’s disease. Glucose, glucagon, E

49
Q

Infant with cadiomegaly and large tongue. Normal glucose. Glycogen storage Dz? Defect? Histo?

A

Pompe’s. Defect in lysosomal a-1,4 gluosidase. Glucose accumulation in liver lysozomes

50
Q

Infantile cirrhosis and failure to thrive. Glycogen storage dz? Defect?

A

Andersons. Defect in branching enzyme

51
Q

Painful muscle cramps and peeing red after exercise? Defect?

Tx?

A

McArdle’s. Skeletal muscle glycogen phosphorylase

Ingestion of sucrose before exercise

52
Q

Baby with little growth, fasting hypoglycemia and hepatomegaly? defect?

A

Her’s. Hepatic glycogen phosphorylase

53
Q

Child with with peripheral neuropathy, renal disease and small discolored spots.

Defect and accumulated substance?

A

Farby’s (only glycogen storage disorder with renal dz) a-galactosidase A and ceramide trihexoside

54
Q

Child with Hepatosplenomegaly, aseptic necrosis of femur

Defect and accumulated substance?

A

Gaucher’s. B-glucocerebrosidase. Glucocerebroside

55
Q

Child with Macrophages that looks like crumpled up tissue paper?

Defect and accumulated substance?

A

Gaucher’s. B-glucocerebrosidase. Glucocerebroside

56
Q

Child with Hepatosplenomegaly and cherry red spot?

Defect and accumulated substance?

A

Neimann-Pick Dz. Sphingomyelinase. Shingomylin

57
Q

Child with Cherry red spot, neurodegeneration. Normal abdominal exam

Defect and accumulated substance?

A

Tay-Sachs (no hepatosplenomegaly). Hexosaminidase A. GM2 ganglioside

58
Q

3 year old. Abnormal startle, decreased motor skills. Cherry red spot?

Defect and accumulated substance?

A

Tay-Sachs (no hepatosplenomegaly). Hexosaminidase A. GM2 ganglioside

59
Q

Child with Peripheral neuropathy, developmental delay, irritable with optic atrophy?

Defect and accumulated substance?

A

Krabbe’s. Galactocerebrosidase. Galactocebroside.

60
Q

Child with ataxia, central and peripheral demylination.

Defect and accumulated substance?

A

Metachromatic leukodystrophy. Arylsulfatase A. Cerebroside sulfate.

61
Q

child with hepatosplenomegaly, cateracts, hepatoslenomegaly. Gargoyle like face.

Defect and accumulated substance?

A

Hurlers. a-L-iduronidase. Heparan sulfate, dermatan sulfate

62
Q

Aggressive child with gargoyle like face. Normal eyes. Pebbly skin lesions?

Defect and accumulated substance?

A

Hunters. Iduronate sulfatase. Heparan sulfate, dermatan sulfate.

63
Q

Pt with weakness, hypotonia, hypoglycemia without ketones. Deficiency in what transporter?

A

Carnitine deficiency (no LCFA breakdown in mito)

64
Q

Starvation. Sources of energy?

A 
ATP (secs)
Creatine (secs)
Glycogen (12 hours)
Liver gluconeogenesis (12-18 hours)
Ketones from B-oxidation (18 hours to 3 days)
Protein degradation and death (3+ days)
65
Q

Abdominal pain, xanthomas. Hepatosplenomegaly? Increased levels of? Defect?

A

I-hyperchyomicronemia. No lipoprotein lipase. increased chylomicrons, TG, cholesterol

66
Q

See rings in eye, tendon xanthomas, atherosclerosis? Defect? Increased levels of?

A

IIa familial hyperchlesterolemia. No LDL-R. too much LDL, cholesterol

67
Q

Spots on eyes, pancreatitis, hepatomegaly. Affects every generation? Defect? Increased levels of?

A

IV - familial hyperchlesterolemia. Increased VLDLs.

68
Q

Infant with failure to thrive, steatorrhea, ataxia, acanthocytosis. Defect? Histo?

A

Abetalipoproteinemia. Microsomal tryglyceride transder protein (MTP gene) - decreased B48 and B100. Fat in enterocytes.

69
Q

Pt with pale spots on eyes, gap between 1st and 2nd toes, deafness and mental retardation. Later in life at risk for?

A

Down syndrome. ALL and Alzheimers

70
Q

Pt with thin, fragile skin and a hx of aortic aneurysms is pregnant. Danger>

A

Elhers-Danlos. Worried about uterine rupture

71
Q

12 year old mentally retarded boy with bilaterally dislocated lenses, and tall thin body? Should go on what diet? Furture risk for?

A

Homocystinuria. Go on a high cystine, low methionine diet (cystine has become essential).
Cardiovascular disease and osteoporosis

72
Q

Pt with course facial features, cateracts and umbilical hernia with skeletal abnormalities. EM will show?

A

Hurlers. Swollen lysosomal vesicles. Accumulation of partially degraded polsaccharides.

73
Q

Pt with repeated sinus infections and point of maximal impulse at the right fifth intercosatal margin. Specific defect?

A

Kartageners. Dynein

74
Q

Pt with incresingly irratible child. “Orange sand” in diapers.

A

Lesch-Nyhan. Uric acid results in crystal urine.

75
Q

Pt with increasing SOB. Alcoholic. Tingling and burning in legs. Bilateral rales and pitting edema. Enlarged cardic silhouette.

A

Beriberi (B1 deficiency)

76
Q

6 year old with vision problems and mental retardation dies of stroke.

Vitamin that should have been given?

A

Homocysteinuria. B6

77
Q

Pt with mitral valve replacement. Gets endocarditis, catalase-positive and coagulase-negative. Tx?

A

S. epidermis endocarditis - Vancomycin

78
Q

Insulin - receptor? Receptor then does?

A

TK receptor. Activates potein phosphatase 1

79
Q

MAP-Kinase vs JAK-STAT pathway?

A

GFs vs GH, polactin, inflam mediators/cytokines, prolactin (PIG)

2nd Time Through (23 decks)

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