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Biochemistry > Disease Review--Causes > Flashcards

Disease Review--Causes Flashcards

1
Q

Orotic aciduria?

A

Defect in UMP synthase

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2
Q

ADA deficiency?

A

Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase–prevents DNA synthesis, low lymphocyte count

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3
Q

Lesch-Nyhan?

A

HGPRT deficiency

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4
Q

Amanita phalloides ingestion?

A

Inhibits RNA pol II

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5
Q

Xeroderma pigmentosum?

A

Mutation of nucleotide excision repair

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6
Q

Hereditary nonpolyposis colorecal cancer?

A

Mutation in mismatch repair

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7
Q

Ataxia telangiectasia?

A

Mutation in nonhomologous end joining

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8
Q

I-cell disease?

A

Failure to add mannose-6-phosphate to lysosome proteins

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9
Q

Chediak Higashi syndrome?

A

Mutation in LYST

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10
Q

Kartagener’s syndrome?

A

Defect in dynein arm

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11
Q

Osteogenesis imperfecta?

A

Defect in collagen type I, problem forming triple helix during glycosylation

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12
Q

Ehlers-Danlos?

A

Defect in collagen type III, problems with cross-linking fibril

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13
Q

Alport syndrome?

A

Defect in collagen type IV

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14
Q

Marfan’s?

A

Fibrillin defect

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15
Q

Emphysema?

A

a1-antitrypsin deficiency

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16
Q

Prader-Willi, Angelman’s?

A

Chr 15

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17
Q

Achondroplasia?

A

FGFR3

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18
Q

ADPKD?

A

PKD1, Chr 16

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19
Q

FAP?

A

Chr 5, APC gene deletion

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20
Q

Hereditary spherocytosis?

A

Spectrin/ankyrin defect

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21
Q

Huntington’s?

A

Chr 4, CAG

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22
Q

NF1?

A

Chr 17

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23
Q

NF2?

A

Chr 22

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24
Q

von Hippel Lindau?

A

VHL gene deletion on Chr 3

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25
Q

CF?

A

CFTR gene defect on Chr 7, deletion of Phe 508

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26
Q

Duchenne’s?

A

Dystrophin deletion

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27
Q

Becker’s?

A

Dystrophin mutation

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28
Q

Fragile X?

A

FMR1 gene defect, CGG

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29
Q

Friedreich’s ataxia?

A

GAA

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30
Q

Myotonic dystrophy?

A

CTG

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31
Q

Cri-du-chat?

A

Microdeletion of short arm of Chr 5 (46,XX or XY, 5p-)

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32
Q

Williams?

A

Microdeletion of Chr 7

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33
Q

DiGeorge?

A

22q11 deletion

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34
Q

Velocardiofacial syndrome?

A

22q11

35
Q

Wernicke-Korsakoff?

A

Thiamine B1 deficiency

36
Q

Beriberi?

A

Thiamine B1 deficiency

37
Q

Pellagra?

A

Niacin B3 deficiency

38
Q

Kwashiokor?

A

Protein deficiency

39
Q

Marasmus?

A

Energy deficiency

40
Q

Pyruvate dehydrogenase complex deficiency?

A

Mutation in X-linked gene for E1-a subunit of PDC

41
Q

Essential fructosuria?

A

Fructokinase defect

42
Q

Fructose intolerance?

A

Aldolase B deficiency

43
Q

Galactokinase deficiency?

A

Galactokinase deficiency

44
Q

Classic galactosemia?

A

Galactose-1-phosphate uridyltransferase absence

45
Q

PKU?

A

Deficiency in either 1) Phe hydroxylase, 2) tetrahydrobiopterin cofactor

46
Q

Maternal PKU?

A

Lack of dietary therapy during pregnancy

47
Q

Alkaptonuria?

A

Homogentisic acid oxidase deficiency

48
Q

Albinism?

A

Tyrosinase deficiency, defective tyrosine transporters, lack of neural crest cell migration

49
Q

Homocystinuria?

A

1) cystathionine synthase deficiency, 2) decreased affinity fo cystathionine synthase for pyridoxal phosphate, 3) homocsteine methytransferase deficiency

50
Q

Cystinuria?

A

Defect of renal tubular amino acid transporter

51
Q

Maple syrup urine disease?

A

Blocked degradation of branched amino acids (Ile, Leu, Val) due to a-ketoacid dehydrogenase deficiency

52
Q

Hartnup?

A

Defect in neutral amino acid transporter–causing tryptophan deficiency

53
Q

von Gierke’s?

A

Glucose-6-phosphatase

54
Q

Pompe’s?

A

Lysosomal a-1,4-glucosidase

55
Q

Cori’s?

A

Debranching EZ (a-1,6-glucosidase)

56
Q

McArdle’s?

A

Skeletal muscle glycogen phosphorylase

57
Q

Fabry’s?

A

a-galactosidase A

58
Q

Gaucher’s?

A

Glucocerebrosidase

59
Q

Niemann-Pick?

A

Sphingomyelinase

60
Q

Tay-Sachs?

A

Hexosaminidase A

61
Q

Krabbe’s?

A

Galactocerebrosidase

62
Q

Metachromatic leukodystrophy?

A

Arylsulfatase A

63
Q

Hurler’s?

A

a-L-iduronidsase

64
Q

Hunter’s?

A

Iduronate sulfatase

65
Q

Hyperchylomicronemia?

A

Lipoprotein lipase deficiency

66
Q

Familial hypercholesterolemia?

A

Absent/decreased LDL receptors

67
Q

Hypertriglyceridemia?

A

Hepatic overproduction of VLDL

68
Q

Abeta-lipoproteinemia?

A

Mutation in microsomal TG transfer protein (MTP) gene–deficiencies in apoB-100 and apoB-48

69
Q

Carnitine deficiency?

A

Inability to transport long chain fatty acids into the mitochondria, causing weakness, hypotonia, hypoketotic hypoglycemia

70
Q

ATM kinase mutation?

A

Ataxia telangiectasia

71
Q

Chr involved in Prader Willi and Angelmans?

A

Chr 15

72
Q

Why accumulates in essential fructosuria?

A

Fructose

73
Q

What accumulates in fructose intolerance?

A

Fructose-1-P

74
Q

What accumulates in galactokinase deficiency?

A

Galactose

75
Q

What accumulates in classic galatosemia?

A

Galactose-1-P

76
Q

What becomes essential in phenylketonuria?

A

Tyrosine

77
Q

What builds up in alkaptonuria?

A

Tyrosine

78
Q

What is lost in the urine in Hartnup?

A

Tryptophan

79
Q

Down’s quad screen?

A

1) AFP = low
2) hCG = high
3) Estriol = low
4) Inhibin A = high

80
Q

Edward’s quad screen?

A

1) AFP = low
2) hCG = low
3) Estriol = low
4) Inhibin A = normal

81
Q

Patau’s 1st trimester screen?

A

1) hCG = low
2) PAPP-A = low
3) Nuchal translucency = high

82
Q

Achondroplasia Chr?

A

Chr 4

83
Q

Marfan’s Chr?

A

Chr 15

Biochemistry (9 decks)

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