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Up to: Disorder of methionine catabolism
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
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.
This condition has no sub-types.