has material basis in germline mutation in ADK disorder of methionine catabolism autosomal recessive non-syndromic intellectual disability adenosine kinase deficiency https://github.com/monarch-initiative/mondo/issues/2587 https://www.malacards.org/card/hypermethioninemia_due_to_adenosine_kinase_deficiency hypermethioninemia encephalopathy due to adenosine kinase deficiency ADK hypermethioninemia Orphanet:289290 MONDO:0100255 ADK deficiency MRT8 A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. OMIM:611094 autosomal recessive intellectual disability 8 hypermethioninemia encephalopathy due to ADK deficiency mental retardation, autosomal recessive 8 MESH:C567015 mental retardation, autosomal recessive 8, formerly mental retardation, autosomal recessive 8; MRT8 DOID:0111038 UMLS:C4706555 hypermethioninemia due to adenosine kinase deficiency adenosine kinase deficiency MEDGEN:1632232 GARD:0017321 OMIM:614300