Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Definition
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.
Also known as hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase — per MONDO