Disorders of amino acid metabolism associated with epilepsy

Seizures are a common presenting manifestation in children with disorders of amino acid metabolism. However, seizures may be very common in some specific diseases, but are rare in other diseases. In patients with classical maple syrup urine disease (MSUD), seizures commonly occur in the neonatal stage. But in intermittent or intermediate MSUD, seizures may develop in a later stage, or are uncommon. Patients with nonketotic hyperglycinemia often present with early myoclonic encephalopathy in the first weeks of life. However, in patients with atypical variants, seizures may be rare. In addition, patients with sulfite oxidase deficiency, serine deficiency, or GABA-related disorders may also present with different types of seizures. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is frequently misdiagnosed as seizures. Therefore, the incidence of seizures in disorders of amino acid metabolism is variable. Timely diagnosis and early treatment may improve the prognosis of these disorders.