Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.
Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low alpha-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.
D000293:Adolescent; D000748:Anemia, Macrocytic / Q000235:genetics*; D000749:Anemia, Megaloblastic / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency*; D007658:Ketone Oxidoreductases / Q000172:deficiency*; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000097:blood; D013577:Syndrome; D013831:Thiamine / Q000008:administration & dosage / Q000627:therapeutic use*; D014174:Transketolase / Q000097:blood
D011768:Pyruvate Dehydrogenase Complex; D007658:Ketone Oxidoreductases; D007655:Ketoglutarate Dehydrogenase Complex; D014174:Transketolase; D013831:Thiamine