Term Name: | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
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Synonyms: | hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency, psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Definition: | A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. |
Ontology: | Human Disease [DOID:0111039] ( DOID:0111039 ) |