ISSN:
1432-0428
Keywords:
Congenital diabetes mellitus
;
absence of beta cells
;
methylmalonic acidaemia
;
mutase deficiency
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00400240
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