hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (DOID:0111039)
Alliance: disease page
Synonyms: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Alt IDs: OMIM:613752, ICD10CM:E72.1, ORDO:88618
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.