Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

MONDO:0013404

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, hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase itself.

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↑ Disorder of methionine catabolism (0)

Including sub-types (1) Tagged with Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (0)

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