Diseases in biochemistry 1

Disease	Affected enzyme(s)
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
Tyorsinemia 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