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Flashcards in Final Deck (96)
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1

most common erros of carb metabolism

hyperglycemia (DM type 1 and 2)

2

maturity-onset diabetes of youth

glucokinase Df

3

most common monogenetic disorder of carb metabolism

galactosemia

4

galactosemia

galactose-1-phosphate uridyl transferase

5

fructosuria

hepatic fructokinase Df

6

hereditary fructose intolerance

fructose-1-phosphate aldolase

7

Pompe's disease

- glycogen
- cardiac muscle

8

PKU that can't be treated with phenylalanine restrictions

dihydropteridine reductase Df

9

acidosis

methylmalonyl CoA mutase Df

10

tyrosinemia

fumarylacetoacetate hydrolase Df

11

alkaptonuria

homogentisic acid oxidase Df
- black urine

12

dislocation of the lens

homocystinuria

13

most common inborn error of fatty acid metabolism

MCAD
- medium-chain Acyl-CoA dehydrogenase
- fasting

14

familial hypercholesterolemia

mutation for LDL receptors on liver

15

skin xanthomas and premature atherosclerosis

familial hypercholesterolemia

16

smith-lemli-opitz

^7-sterol reductase Df

17

urea cycle disorders

ornithine transcarbamoylase (OTC)
- X-linked

18

herditary hemochromatosis

mutated HFE gene --> elevated hemosiderin and excess iron

19

Menkes disease

copper Df

20

acrodermatitis enteropathica

zinc Df

21

widespread disorder of epithelial transport and the most common lethal genetic disease that affects caucasians

cystic fibrosis

22

chronic pulmonary infections and pancreatic insufficiency

cystic fibrosis

23

mutation to CFTR gene and high sodium chloride

cystic fibrosis

24

PDGF

glioblastoma

25

TGF-alpha

sarcomas

26

FGF

stomach carcinoma

27

HGF

thryoid carcinoma

28

ERBB

lung carcinoma

29

HER2/NEU

breast carcinoma

30

RET

multiple endocrine