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Biochem R&M > Biochem diseases and mutations > Flashcards

Biochem diseases and mutations Flashcards

1
Q

Adenosine deaminase deficiency

A

Adenosine deaminase (duh)

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2
Q

Lesch-Nyhan Syndrome

A

Absent HGPRT

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3
Q

Xeroderma pigmentosum

A

Defective ntide excision repair

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4
Q

HNPCC

A

Defective mismatch repair

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5
Q

Ataxia telangiectasia

A

Defective nonhomologous end joining

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6
Q

I cell dz

A

Defective phosphotransferase

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7
Q

Parkinson dz (only some types)

A

Defects in ubiquitin-proteasome system

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8
Q

Kartagener syndrome

A

Defect in dyenin arm

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9
Q

OI type 1

A

Decreased production of type 1 collagen

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10
Q

Vascular type of EDS

A

Defect in type III collagen

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11
Q

Alport syndrome

A

Defective type IV collagen

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12
Q

Goodpasture syndrome

A

AutoAb against type IV collagen

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13
Q

Hypermobility type EDS

A

Defect in collagen X-linking

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14
Q

Classical EDS

A

Mutation in type V collagen

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15
Q

Menkes dz

A

Impaired copper absorption and transport

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16
Q

Marfan syndrome

A

Defect in fibrillin-1

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17
Q

Prader-Willi

A 
Maternal imprinting (mom gene is normally silent; dad gene is deleted/mut); chr 15. 
25% of cases are from maternal UPD
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18
Q

Angelman syndrome

A 
Paternal imprinting (dad gene is normally silent; mom gene is deleted/mut); chr 15
5% of cases are from paternal UPD
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19
Q

Mitochondrial myopathies

A

Failure in oxidative phosphorylation

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20
Q

DMD

A

Frameshift mutation in dystrophin

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21
Q

BMD

A

Point mutation in dystrophin

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22
Q

Myotonic dystrophy

A

TNR: CTG repeats–> abnormal expression of myotonin protein kinase

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23
Q

Fragile X syndrome

A

TNG: CGG–>mutated FMR1 gene

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24
Q

HD

A

TNR-CAG repeats

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25
Q

Friedrich ataxia

A

TNR- GAA repeats

26
Q

Down syndrome

A

Trisomy 21

27
Q

Patau syndrome

A

Trisomy 13

28
Q

Edward syndrome

A

Trisomy 18

29
Q

Cri-du-chat syndrome

A

Congenital microdeletion of short arm of chr 5

30
Q

Williams syndrome

A

Congenital microdeletion of long arm of chr 7 (deleted region includes elastin gene)

31
Q

DiGeorge syndrome

A

22q11 deletion syndrome

32
Q

Velocardiofacial syndrome

A

22q11 deletion syndrome

33
Q

Mild galactosemia

A

Galactokinase deficiency

34
Q

Severe (classical) galactosemia

A

Galactose-1-phosphate uridyltransferase deficiency

35
Q

Essential fructosuria

A

Fructokinase

36
Q

Fructose intolerance

A

Aldolase B

37
Q

CGD

A

NADPH oxidase

38
Q

G6PD deficiency

39
Q

N-acetylglutamate deficiency

A

Absent N-acetylglutamate

40
Q

Orinthine transcarbamylase deficiency

A

You know the answer to this

41
Q

PKU

A

Decreased phenylalanine hydroxylase

42
Q

Malignant PKU

A

Decreased tetrahydrobiopterin

43
Q

Alkaptonuria

A

Deficiency of homogentisate oxidase

44
Q

Homocystinuria (3 types/defects total)

A
  1. Cystathionine synthase deficiency
  2. Decreased affinity of cystathionine synthase for pyridoxal phosphate
  3. Deficiency of homocysteine methyltransferase
45
Q

Cystinuria

A

Defect of renal PCT and intestinal amino acid transporter for cys, orinthine, lys, and arg.

46
Q

Maple syrup urine dz

A

Decreased alpha-ketoacid DH

47
Q

Von Gierke dz

A

Deficient glc-6-phosphatase

48
Q

Pompe dz

A

Deficient lysosomal alpha-1,4-glucosidase (acid maltase)

49
Q

Cori dz

A

Deficient debranching enz (alpha-1,6-glucosidase)

50
Q

McArdle dz

A

Deficient skeletal muscle glycogen phosphorylase (myophosphorylase)

51
Q

Fabry dz

A

Deficient alpha-galactosidase A

52
Q

Gaucher dz

A

Deficient glucocerebrosidase (beta-glucosidase)

53
Q

Neimann-Pick dz

A

Deficient sphingomyelinase

54
Q

Tay-Sachs dz

A

Deficient hexosaminidase A

55
Q

Krabbe dz

A

Deficient galactocerebrosidase

56
Q

Metachromic leukodystrophy

A

Deficient arylsulfatase A

57
Q

Hurler syndrome

A

Deficient alpha-L-iduronidase

58
Q

Hunter syndrome

A

Deficient iduronate sulfatase

59
Q

Hyperchylomicronemia (2 possible deficiencies/mutations)

A
  1. Deficient lipoprotein lipase

2. Altered apolipoprotein C-II

60
Q

Familial hypercholesterolemia

A

Absent/defective LDL-receptors

61
Q

Hypertriglyceridemia

A

Hepatic overproduction of VLDL

Biochem R&M (8 decks)

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