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pyridoxamine 5'-phosphate oxidase deficiency (DOID:0111329)
Alliance: disease page
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
Alt IDs: OMIM:610090, MESH:C566449, ORDO:79096, UMLS_CUI:C1864723
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory