Diabetes Mellitus, Thiamine-Dependent Megaloblastic Anemia, and Sensorineural Deafness Associated With Deficient Alpha-Ketoglutarate Dehydrogenase Activity

J Pediatr. 1985 Oct;107(4):537-41. doi: 10.1016/s0022-3476(85)80011-1.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anemia, Macrocytic / genetics*
  • Anemia, Megaloblastic / drug therapy
  • Anemia, Megaloblastic / genetics*
  • Child
  • Child, Preschool
  • Deafness / genetics*
  • Diabetes Mellitus / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Ketoglutarate Dehydrogenase Complex / deficiency*
  • Ketone Oxidoreductases / deficiency*
  • Male
  • Pyruvate Dehydrogenase Complex / blood
  • Syndrome
  • Thiamine / administration & dosage
  • Thiamine / therapeutic use*
  • Transketolase / blood

Substances

  • Pyruvate Dehydrogenase Complex
  • Ketone Oxidoreductases
  • Ketoglutarate Dehydrogenase Complex
  • Transketolase
  • Thiamine