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Flashcards in Genetics Overview Deck (48):
1

galactose-1-phosphate uridylyltransferase

galactosemia

2

glucocerebrosidase B-glucosidase

Gaucher Disease

3

fumarylacetoacetase

hereditary tyrosinemia

4

cystathionine B-synthase

homocystinuria

5

iduronate 2-sulfatase

Hunter Syndrome

6

alpha-iduronidase

Hurler Syndrome

7

galactocerebrosidase alpha-galactosidase

Krabbe Disease

8

hypoxanthine phosphoribosyltransferase

Lesch-Nyhan Syndrome

9

branched chain ketoacid dehydrogenase

maple syrup urine disease

10

medium-chain acyl-coA dehydrogenase

MCAD deficiency

11

glycogen phosphorylase

mcardle disease

12

methylmalonyl-coa mutase

methylmalonic acidemia

13

sphingomyelinase

sphingomyelin --> ceramide niemann-pick disease

14

phenylalanine hydroxylase

PKU

15

acid maltase

pompe disease

16

pyruvate dehydrogenase

pyruvate dehydrogenase deficiency

17

hexoaminidase A

tay sachs disease

18

carbamyl phosphatase synthetase

urea cycle disorder

19

ornithine transcarbamylase

urea cycle disorder

20

arginosuccinate synthetase

urea cycle disorder

21

argininosuccinate lyase

urea cycle disorder

22

glucose-6-phosphatase

von gierke disease

23

galactosemia

galactose-1-phosphate uridylyltransferase

- vomitting

- hepatomegaly

- jaundice 

24

Gaucher Disease

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