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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
hereditary tyrosinemia
fumarylacetoacetase liver and renal dysfunction elevatued urine succinalyacetone
26
homocystinuria
cystathionine B-synthase marfanoid habitus dislocated lenses thromboembolic events
27
Hunter Syndrome
iduronate 2-sulfatase MR (1-2 years old) HSM (1-2 years old) aggressive behavior
28
Hurler Syndrome
alpha-iduronidase MR - brith HSM - birth cardiomyopathy corneal clouding, garygolism
29
Krabbe Disease
galactocerebrosidase alpha-galactosidase microcephaly/MR spasticity, hypotonia peripheral neuropathy
30
Lesch-Nyhan Syndrome
hypoxanthine phosphoribosyltransferase CNS dysfunction hyperuricemia
31
maple syrup urine disease
branched chain ketoacid dehydrogenase poor feeding, coma, seizures ketoacidosis elevated valine, leucine, isoleucine
32
MCAD deficiency
medium-chain acyl-coA dehydrogenase hypoglycemia lack of ketones elevated serum octanoylcarnitine
33
mcardle disease
glycogen phosphorylase muscle weakness rhabdomyolysis
34
methylmalonic acidemia
methylmalonyl-coa mutase hyperammonemia metabolic acidosis
35
niemann-pick disease
sphingomyelinase MR - brith, HSM - birth cherry red macula
36
PKU
phenylalanine hydroxylase compound heterozygotes severe MR
37
pompe disease
acid maltase hypotonia, hypertrophic cardiomyopathy
38
pyruvate dehydrogenase deficiency
pyruvate dehydrogenase hypotonia/poor feeding microcephaly, mental retardation lactic acidosis
39
tay sachs disease
hexoaminidase A developmental delay - 3 months weak muscles - 3 months cherry red macula
40
urea cycle disorder
hyperammonemia low citrulline - CPS, OTC high citruline - ASS, ASL high urine orotic acid - OTC
41
von gierke disease
glucose-6-phosphatase severe hypoglycemia
42
UDP-glucuronosyltransferase
transform lipophilic molecules into excretable metabolites Crigler-Najjar Syndrome Gilbert's syndomre
43
Ataxia telangiectasia
phosphatidylinositol-3 kinase in DNA repair causes lymphomas, leukemeias AR ataxia combined immunodeficiency
44
Li-Fraumeni
p53 breast neoplasms, brain tumors, etc Autosomal dominant
45
Xeroderma pigmentosum
complex that repairs DNA following UV damage basal cell carcinoma, squamous cell carcinoma, melanoma autosomal recessive
46
Fabry Dz
alpha galactosidase A peripheral neuropathy renal dysfunction angiokeratomas
47
Metachromic Leukodystrophy
airsulfytase A demyelination --\> ataxia and dementia
48
Cori's Disease
debranching enzyme milder form of Von Gierkes, normal blood lactate levels

First Aid Sections (25 decks)

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