Poruchy metabolismu leucinu

Choroba javorového sirupu (OMIM 248600)

Maple syrup disease (branched-chain alpha-ketoacid dehydrogenase complex deficiency):

1. Decarboxylase (E₁),

E₁-alpha-subunit

E₁-beta-subunit

OMIM: 248600

Choroba javorového sirupu (OMIM 248610)

Maple syrup disease (branched-chain alpha-ketoacid dehydrogenase complex deficiency):

2. Dihydrolipoyl acyltransferase (E₂)

OMIM: 248610

Choroba javorového sirupu (OMIM 248611)

Maple syrup disease (branched-chain alpha-ketoacid dehydrogenase complex deficiency):

3. Lipoamide dehydrogenase (E₃)

OMIM: 248611

Acidémie izovalerová

Isovaleric acidemia (isovaleryl-CoA dehydrogenase deficiency)

OMIM: 243500

Deficit 3-metylkrotonyl-CoA karboxylázy

3-Methylcrotonyl-CoA carboxylase deficiency

OMIM: 210200

Acidurie 3-metylglutakonová

3-Methylglutaconic aciduria type I (3-methylglutaconyl-CoA hydratase deficiency)

OMIM: 250950

Syndrom Barthův

Barth syndrome, type II 3-methylglutaconic aciduria

OMIM: 302060

Syndrom Costeffův

Costeff optic atrophy syndrome, type III 3-methylglutatonic aciduria

OMIM: 258501

Acidurie 3-methylglutakonová typ IV

Methylglutatonic aciduria, idiopathic type IV

OMIM: 250951

Acidurie 3-hydroxy-3-metylglutarová

3-OH-3-methylglutaric aciduria (3-OH-3-methylglutaryl-CoA lyase deficiency)

OMIM: 246450