pyridoxamine 5'-phosphate oxidase deficiency

Term ID

DOID:0111329

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

• GARD:10730
• MESH:C566449
• OMIM:610090
• ORDO:79096
• SNOMEDCT_US_2023_03_01:724576005
• UMLS_CUI:C1864723

Ontology

Human Disease   ( DOID:0111329 )