Pyridoxal dependent epilepsy

Description

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.

Coding note from above levels

Use additional code, if desired, to identify the type of seizure.

Index terms

Pyridoxal dependent epilepsy

Exclusions from above levels

8A60.0 – Epilepsy due to prenatal or perinatal brain insults
KB06 – Neonatal seizures
MG45 – Syncope

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05 – Endocrine, nutritional or metabolic diseases
18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8A61.0Y – Other specified genetic epileptic syndromes with neonatal onset
8A61.0Z – Genetic epileptic syndromes with neonatal onset, unspecified

Foundation entity

Pyridoxal dependent epilepsy – http://id.who.int/icd/entity/1632334328

Allowed postcoordination axes

hasManifestation

Part of: 8A61.0: Genetic epileptic syndromes with neonatal onset › 8A61: Genetic or presumed genetic syndromes primarily expressed as epilepsy › 08: Diseases of the nervous system