pyridoxal phosphate-responsive seizures
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.
MONDO:0019237
inborn disorder of pyridoxine metabolism
is_a
MONDO:0100033
metabolic epilepsy
is_a
MONDO:0100545
hereditary neurological disease
is_a
PNPO deficiency
exact
PNPO-related neonatal epileptic encephalopathy
exact
PNPOD
related
pyridox(am)ine 5’-phosphate oxidase deficiency
exact
pyridoxal 5'-phosphate-dependent epilepsy
related
pyridoxal phosphate-dependent seizures
exact
pyridoxamine 5'-phosphate oxidase deficiency
exact
pyridoxine 5' phosphate oxidase deficiency
exact
pyridoxine-5'-phosphate oxidase deficiency
related
SPAC1093.02