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45 Cards in this Set
- Front
- Back
- 3rd side (hint)
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acatalasia |
catalase |
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albinism |
tyrosinase |
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cystic fibrosis |
CF transmembrane conductance regulator |
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Fabrays disease |
alfa-galactosidase |
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Gauchers disease |
glucocerebrosidase |
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goiter |
iodotyrosine dehalogenase |
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hemophilia |
factor VIII |
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hyperammonemia |
ornithine transcarbamylase |
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McArdles Syndrome |
Muscle phosphorylase |
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Niemann-Pick disease |
sphingomyelinase |
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phenylketonuria |
phenylalanine hydroxylase |
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pulmonary emphysema |
alfa-globulin of blood |
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sickle cell anemia |
hemoglobin |
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Tay-Sachs disease |
hexosaminidase A (fatty acid derivative accumulate in brain) |
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Wilsons disease |
Ceruloplasmin (blood protein) |
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alkaptonuria |
Homogenisate dioxygenase! (homogenisate --O2-->H+--> maleylacetoacetate) lang greie med CH2 og C=O masse greier
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arginemia |
arginase (arg -> ornith + urea) |
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argininosuccinic acidemia |
argininosuccinate lyase (arg-succ-> arg + fum) |
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homocystinuria |
cystathionine B-synthase (homocystein + serine -> cystathionine) |
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maple syrup |
branched alfa-ketoacid dehydrogenase complex |
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methylmalonic acidemia |
methylmalonyl Coa-mutase |
methyl-malonyl via---B12---succinyl-Coa |
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tyrosinemia1 |
fumarylacetoacetase |
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tyrosinemia1 |
fumarylacetoacetase |
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tyrosinemia2 |
tyrosine aminotransferase (tyr + alfaketoglut -plp-> hydroxyphenylpyruvate + glutamate) |
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tyrosinemia3 |
phydroxyphenylpyruvate dioxygenase (-> homogenisate) |
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viral hepatitis |
alanine aminotransferase |
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acute liver damage |
aspartate aminotransferase |
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alcohol toxicity |
gamma-glutamyltransferase |
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alcohol toxicity |
gamma-glutamyltransferase |
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biliary tract damage and inflammation |
alkaline phosphatase |
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Lesch Nyhan Syndrome |
hypoxanthine-guanine phosphoribosyl transferase |
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citrullinemia type 1 |
argininosuccinate synthase |
citrulline + aspartate -> argininosuccinate |
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leads to formation of galactose, pot. causing cataract |
aldose reductase w/galactose |
galactose -> galactitol |
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carnitine palmitoyl transferase def. |
carnitine + acylcoa -> acylcarnitine |
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proprionic acidemia |
propionyl-coa carboxylase (proprionyl-> methylmalonylcoa |
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pompe |
lysosomal glucosidase |
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von gierke |
glc6phospjatase |
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von gierke |
glc6phospjatase |
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Fanconi |
GLUT2 |
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cori/forbes |
debranching enzyme |
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andersens |
branching enzyme |
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Her's |
liver phosphorylase |
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taruls |
muscle PFK1 |
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hemolytic anemia |
glc6p-dehydrogenase (favism! natural protection against malaria!) |
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Farbers |
ceramidase ->> lot of ceramide leads to cell damage and inflammatory respons |
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