ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C59 — Inborn errors of neurotransmitter metabolism
5C59.2 — Disorders of pyridoxine metabolism
8A61.00 — Pyridoxal dependent epilepsy
ICD-11 8A61.00 — Pyridoxal dependent epilepsy
Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: