Management

Management is supportive, multidisciplinary, and symptom-driven, as no disease-specific therapies are currently available. Neurological follow-up is recommended, including management of seizures and consideration of EEG monitoring when clinically indicated. Developmental care should include early intervention, physiotherapy, speech therapy, and neurodevelopmental assessment. Ophthalmologic evaluation is recommended to assess myopia or other visual abnormalities. Nutritional support may be needed in individuals with feeding difficulties. Brain imaging may be useful at diagnosis as part of the initial evaluation.

Because metabolic and biochemical abnormalities, including elevated lactate, altered glucose metabolism, and mild liver dysfunction, have been reported in some patients, laboratory monitoring should be guided by the clinical presentation. Genetic counseling is recommended for affected families.