Management

There is no cure yet.

Previous enzyme replacement therapy study showed recombinant enzyme induced severe immune response, limiting the therapeutic use.
Animal studies of AAV-mediated gene therapy were published recently.

Symptomatic treatment should be administered. Antiseizure medication such as levetiracetam, perampanel, valproate, clobazam and acetazolamide can improve epileptic seizures and myoclonic seizures. Antidepressants should be considered in cases of possible associated depression. Supportive physiotherapy and speech therapy and occupational therapy is recommended depending on the clinical presentation. Preclinical studies have shown indications of an effect of dietary interventions.