hypermethioninemia due to adenosine kinase deficiency (DOID:0111038)
Alliance: disease page
Synonyms: ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency; MRT8
Alt IDs: OMIM:614300, ICD10CM:E72.1, ORDO:289290
Definition: A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.