PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Disease: Infantile Spasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.010 GeneticVariation disease BEFREE Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). 24645144 2014