Психомоторная задержка вследствие недостаточности S-аденозилгомоцистеин гидролазы
Определение
A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. Epidemiology