Details of Disease | DrugMAP

General Information of Disease (ID: DIS3AMWI)

Disease Name	Pyridoxal phosphate-responsive seizures
Synonyms	Pnpo deficiency; pyridoxamine 5-prime-phosphate oxidase deficiency; epileptic encephalopathy, neonatal, Pnpo-related; pyridoxine-5'-phosphate oxidase deficiency; pyridoxal 5'-phosphate-dependent epilepsy; PNPOD; seizures, pyridoxine-resistant, PLP-sensitive; pyridoxal phosphate-dependent seizures; pyridoxamine 5'-oxidase deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxine 5' phosphate oxidase deficiency; PNPO deficiency; pyridoxamine 5'-phosphate oxidase deficiency
Definition	Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DIS625V0: Inborn disorder of pyridoxine metabolism DISD715V: Hereditary neurological disease DIS3AMWI: Pyridoxal phosphate-responsive seizures
Disease Identifiers	MONDO ID MONDO_0012407 MESH ID C566449 UMLS CUI C1864723 OMIM ID 610090 MedGen ID 350498 Orphanet ID 79096 SNOMED CT ID 724576005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PNPO	DE3Z1RA	Limited	Genetic Variation	[1]
PNPO	DE3Z1RA	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPO	OTOUBD05	Definitive	Autosomal recessive	[2]
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References

1	Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency.Front Pharmacol. 2019 Sep 20;10:1086. doi: 10.3389/fphar.2019.01086. eCollection 2019.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.