| Metadata | |
|---|---|
| ID | DOID:0111329 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111329 Copy |
| Name | pyridoxamine 5'-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 |
| Xrefs |
SNOMEDCT_US_2025_09_01:724576005 |
| Subsets |
DO_rare_slim |
| Synonyms |
PNPO deficiency [EXACT] PNPO-related neonatal epileptic encephalopathy [EXACT] pyridoxal 5'-phosphate-dependent epilepsy [EXACT] pyridoxal phosphate-dependent seizures [EXACT] pyridoxal phosphate-responsive seizures [EXACT] pyridoxamine 5'-oxidase deficiency [EXACT] pyridoxamine 5-prime-phosphate oxidase deficiency [EXACT] |
| Parent Relationships |