branched-chain keto acid dehydrogenase kinase deficiency

A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.

What is branched-chain keto acid dehydrogenase kinase deficiency?

branched-chain keto acid dehydrogenase kinase deficiency is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have branched-chain keto acid dehydrogenase kinase deficiency, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with branched-chain keto acid dehydrogenase kinase deficiency

Bilateral tonic-clonic seizureDry skinFocal-onset seizureGeneralized myoclonic seizureGeneralized-onset seizureSeizureSensorineural hearing impairmentSimple febrile seizureTypical absence seizure

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.