Poruchy metabolismu ornitinu, lysinu a tryptofanu

Hyperornitinémie typ I

Ornithine-5-aminotransferase deficiency (hyperornithinemia)

OMIM: 258870

2-Aminoadipic semialdehyde synthetase deficiency

OMIM:

Hyperlysinémie typ I

Hyperlysinemia I

OMIM: 238700

Hyperlysinémie typ II

Hyperlysinemia II or saccharopinuria

OMIM: 268700

Acidurie 2-aminoadipová

Presumed 2-aminoadipate aminotransferase/2-oxoadipate dehydrogenase deficiency (2-amino-/2-oxoadipic aciduria)

OMIM: 204750, 245130

Tryptofanurie

Presumed tryptophan-2,3-dioxygenase deficiency (tryptophanuria)

OMIM: 276100, 600627

Hydroxykynureninemie

Presumed kynureninase deficiency (hydroxykynureninuria)

OMIM: 236800

Hydroxylysinurie

Presumed hydroxylysinekinase deficiency (hydroxylysinuria)

OMIM: 236900

Acidurie glutarová typ I

Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria I)

OMIM: 231670