Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

Diabetologia. 1993 Apr;36(4):352-7. doi: 10.1007/BF00400240.


We report on a female neonate with diabetes mellitus and methylmalonic acidaemia, who died at age 16 days. Using immunocytochemistry, electron microscopy and in situ hybridisation, we were unable to demonstrate any insulin cells in the pancreatic islets. Methylmalonic acidaemia was caused by a methylmalonyl coenzyme A mutase apoenzyme defect. The metabolic crisis of the methylmalonic acidaemia aggravated the diabetes and may explain the failure of insulin therapy. Our results suggest that the infant suffered from a congenital absence of beta cells associated with a genetically transmitted mutase apoenzyme defect.

Publication types

  • Case Reports

MeSH terms

  • Autopsy
  • Cytoplasmic Granules / ultrastructure
  • Diabetes Complications*
  • Diabetes Mellitus / pathology
  • Female
  • Glucagon / analysis
  • Humans
  • Infant, Newborn
  • Insulin / analysis
  • Islets of Langerhans / abnormalities*
  • Islets of Langerhans / pathology
  • Islets of Langerhans / ultrastructure
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / pathology
  • Methylmalonic Acid / metabolism
  • Methylmalonyl-CoA Mutase / deficiency*
  • Microscopy, Electron
  • Pancreas / abnormalities*
  • Pancreas / pathology
  • Pancreas / ultrastructure
  • Synaptophysin / analysis


  • Insulin
  • Synaptophysin
  • Methylmalonic Acid
  • Glucagon
  • Methylmalonyl-CoA Mutase