DISEASES

Disease-gene associations mined from literature

Human genes for pyridoxamine 5'-phosphate oxidase deficiency

Pyridoxamine 5'-phosphate oxidase deficiency [DOID:0111329]

A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.

Synonyms:  pyridoxamine 5'-phosphate oxidase deficiency,  DOID:0111329,  pyridoxamine 5phosphate oxidase deficiency,  PNPO deficiency,  PNPO-related neonatal epileptic encephalopathy ...