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20 Cards in this Set

  • Front
  • Back

Alkaptonuria

Homogentisate 1,2-dioxygenase

Fructosemia

Fructose 1-phosphate aldolase

Fructosuria

Fructokinase

Phenylketonuria

Phenylalanine hydroxylase

Maple syrup urine disease

Branched-chain α-ketoacid dehydrogenase complex

Tyrosinemia type I
Fumarylacetoacetase
Tyrosinemia type II
Tyrosine aminotransferase

Tyrosinemia type III

p-hydroxyphenylpyruvate dioxygenase

Homocystinuria
Cystathione β-synthase
Hyperargininemia
Arginase
Lesch-Nyhan syndrome
Hypoxanthine-guanine phosphoribosyltransferase
Argininosuccinate lyase deficiency
Argininosuccinate lyase
Βeta-ketothiolase deficiency
Acyl-CoA acetyltransferase

Methylmalonic acidemia

Methylmalonic-CoA mutase
Propionic acidemia
Propionyl-CoA carboxylase
Disease that leads to cataract
Aldose reductase with galactose
Galactosemia
Galactokinase

Galactose 1-phosphate uridyltransferase


UDP-galactose 4-epimerase

McArdle’s disease
Glycogen phosphorylase
Cori’s disease
Glucosidase activity of glycogen debranching enzyme
Albinism
Tyrosinase