title: DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.
abstract: We describe three further children with the DOOR syndrome (deafness, onycho-osteodystrophy and mental retardation). A severe seizure disorder and characteristic facial appearance are part of the syndrome. Fourteen similar cases including the present patients are now on record. Autosomal recessive inheritance is likely. An increased level of 2-oxoglutarate in both plasma and urine has been found in our three patients. It is suggested there may be an inherited metabolic defect in this malformation syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D007656:Ketoglutaric Acids / Q000378:metabolism*; D008297:Male; D009264:Nails, Malformed; D012640:Seizures / Q000235:genetics; D013577:Syndrome
chemical_list: D007656:Ketoglutaric Acids