label: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
label_lc: hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
description: "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."