OBO ID: DOID:0111329
Term Name: pyridoxamine 5'-phosphate oxidase deficiency Search Ontology:
Synonyms:
  • PNPO deficiency
  • PNPO-related neonatal epileptic encephalopathy
  • pyridoxal 5'-phosphate-dependent epilepsy
  • pyridoxal phosphate-dependent seizures
  • pyridoxal phosphate-responsive seizures
  • pyridoxamine 5'-oxidase deficiency
  • pyridoxamine 5-prime-phosphate oxidase deficiency
Definition: 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. https://www.ncbi.nlm.nih.gov/pubmed/24658933
References:
Ontology: Human Disease   ( DOID:0111329 )
Relationships
is a type of:
OTHER pyridoxamine 5'-phosphate oxidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPO Pyridoxamine 5'-phosphate oxidase deficiency 610090
PHENOTYPE No data available

CITATIONS (1)
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