Conditions / Genetic
pyridoxamine 5'-phosphate oxidase deficiency
info · Genetic
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 17
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.
Signs and symptoms
- Progressive microcephaly
- Encephalopathy
- Decreased CSF homovanillic acid concentration
- Axial hypotonia
- Hypertonia
- Rotary nystagmus
- Seizure
- Increased circulating lactate concentration
- Global developmental delay
- Failure to thrive
Also known as: PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxal 5'-phosphate-dependent epilepsy; pyridoxal phosphate-dependent seizures; pyridoxal phosphate-responsive seizures