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Genetics Overview Flashcards

1
Q

galactose-1-phosphate uridylyltransferase

A

galactosemia

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2
Q

glucocerebrosidase B-glucosidase

A

Gaucher Disease

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3
Q

fumarylacetoacetase

A

hereditary tyrosinemia

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4
Q

cystathionine B-synthase

A

homocystinuria

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5
Q

iduronate 2-sulfatase

A

Hunter Syndrome

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6
Q

alpha-iduronidase

A

Hurler Syndrome

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7
Q

galactocerebrosidase alpha-galactosidase

A

Krabbe Disease

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8
Q

hypoxanthine phosphoribosyltransferase

A

Lesch-Nyhan Syndrome

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9
Q

branched chain ketoacid dehydrogenase

A

maple syrup urine disease

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10
Q

medium-chain acyl-coA dehydrogenase

A

MCAD deficiency

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11
Q

glycogen phosphorylase

A

mcardle disease

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12
Q

methylmalonyl-coa mutase

A

methylmalonic acidemia

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13
Q

sphingomyelinase

A

sphingomyelin –> ceramide niemann-pick disease

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14
Q

phenylalanine hydroxylase

A

PKU

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15
Q

acid maltase

A

pompe disease

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16
Q

pyruvate dehydrogenase

A

pyruvate dehydrogenase deficiency

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17
Q

hexoaminidase A

A

tay sachs disease

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18
Q

carbamyl phosphatase synthetase

A

urea cycle disorder

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19
Q

ornithine transcarbamylase

A

urea cycle disorder

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20
Q

arginosuccinate synthetase

A

urea cycle disorder

21
Q

argininosuccinate lyase

A

urea cycle disorder

22
Q

glucose-6-phosphatase

A

von gierke disease

23
Q

galactosemia

A

galactose-1-phosphate uridylyltransferase

  • vomitting
  • hepatomegaly
  • jaundice
24
Q

Gaucher Disease

A

glucocerebrosidase B-glucosidase

HSM

anemia/thrombocytopenia

bone pain and fracutres

25
Q

hereditary tyrosinemia

A

fumarylacetoacetase

liver and renal dysfunction

elevatued urine succinalyacetone

26
Q

homocystinuria

A

cystathionine B-synthase

marfanoid habitus

dislocated lenses

thromboembolic events

27
Q

Hunter Syndrome

A

iduronate 2-sulfatase

MR (1-2 years old)
HSM (1-2 years old)

aggressive behavior

28
Q

Hurler Syndrome

A

alpha-iduronidase
MR - brith
HSM - birth
cardiomyopathy

corneal clouding, garygolism

29
Q

Krabbe Disease

A

galactocerebrosidase alpha-galactosidase
microcephaly/MR
spasticity, hypotonia

peripheral neuropathy

30
Q

Lesch-Nyhan Syndrome

A

hypoxanthine phosphoribosyltransferase
CNS dysfunction
hyperuricemia

31
Q

maple syrup urine disease

A

branched chain ketoacid dehydrogenase
poor feeding, coma, seizures
ketoacidosis
elevated valine, leucine, isoleucine

32
Q

MCAD deficiency

A

medium-chain acyl-coA dehydrogenase
hypoglycemia
lack of ketones
elevated serum octanoylcarnitine

33
Q

mcardle disease

A

glycogen phosphorylase
muscle weakness
rhabdomyolysis

34
Q

methylmalonic acidemia

A

methylmalonyl-coa mutase
hyperammonemia
metabolic acidosis

35
Q

niemann-pick disease

A

sphingomyelinase
MR - brith, HSM - birth
cherry red macula

36
Q

PKU

A

phenylalanine hydroxylase
compound heterozygotes
severe MR

37
Q

pompe disease

A

acid maltase
hypotonia, hypertrophic cardiomyopathy

38
Q

pyruvate dehydrogenase deficiency

A

pyruvate dehydrogenase
hypotonia/poor feeding
microcephaly, mental retardation
lactic acidosis

39
Q

tay sachs disease

A

hexoaminidase A
developmental delay - 3 months
weak muscles - 3 months
cherry red macula

40
Q

urea cycle disorder

A

hyperammonemia
low citrulline - CPS, OTC
high citruline - ASS, ASL
high urine orotic acid - OTC

41
Q

von gierke disease

A

glucose-6-phosphatase
severe hypoglycemia

42
Q

UDP-glucuronosyltransferase

A

transform lipophilic molecules into excretable metabolites

Crigler-Najjar Syndrome

Gilbert’s syndomre

43
Q

Ataxia telangiectasia

A

phosphatidylinositol-3 kinase in DNA repair
causes lymphomas, leukemeias
AR
ataxia
combined immunodeficiency

44
Q

Li-Fraumeni

A

p53
breast neoplasms, brain tumors, etc
Autosomal dominant

45
Q

Xeroderma pigmentosum

A

complex that repairs DNA following UV damage

basal cell carcinoma, squamous cell carcinoma, melanoma

autosomal recessive

46
Q

Fabry Dz

A

alpha galactosidase A

peripheral neuropathy

renal dysfunction

angiokeratomas

47
Q

Metachromic Leukodystrophy

A

airsulfytase A

demyelination –> ataxia and dementia

48
Q

Cori’s Disease

A

debranching enzyme

milder form of Von Gierkes, normal blood lactate levels

First Aid Sections (25 decks)

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