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DO Term : pyridoxamine 5'-phosphate oxidase deficiency [DOID:0111329] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • pyridoxal phosphate-responsive seizures,
  • pyridoxal 5'-phosphate-dependent epilepsy,
  • OMIM:610090,
  • PNPO-related neonatal epileptic encephalopathy,
  • 610090,
  • pyridoxal phosphate-dependent seizures,
  • pyridoxamine 5'-oxidase deficiency,
  • pyridoxamine 5-prime-phosphate oxidase deficiency,
  • ORDO:79096,
  • SNOMEDCT_US_2023_03_01:724576005,
  • PNPO deficiency,
  • UMLS_CUI:C1864723,
  • MESH:C566449,
  • GARD:10730
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