Rare Disease Library

Variegate porphyria

Protoporphyrinogen oxidase deficiency · Porphyria variegata

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Monoamine oxidase A deficiency

Brunner syndrome

Myeloperoxidase deficiency

MPO deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

Prolidase deficiency

Hyperimidodipeptiduria

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

Xanthinuria type I

XDH deficiency · XO deficiency