title: Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.
abstract: 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.
authors.affiliation: Neonatal Clinic, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, ULB.
authors.forename: D
authors.initials: D
authors.lastname: Blum
authors.forename: H
authors.initials: H
authors.lastname: Dorchy
authors.forename: T
authors.initials: T
authors.lastname: Mouraux
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: Y
authors.initials: Y
authors.lastname: Mardens
authors.forename: A
authors.initials: A
authors.lastname: Kumps
authors.forename: C
authors.initials: C
authors.lastname: De Prez
authors.forename: P
authors.initials: P
authors.lastname: Heimann
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: R
authors.initials: R
authors.lastname: Baumgartner
mesh_terms: D001344:Autopsy; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000473:pathology; D005260:Female; D005934:Glucagon / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000032:analysis; D007515:Islets of Langerhans / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D008764:Methylmalonic Acid / Q000378:metabolism; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D008854:Microscopy, Electron; D010179:Pancreas / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D016708:Synaptophysin / Q000032:analysis
chemical_list: D007328:Insulin; D016708:Synaptophysin; D008764:Methylmalonic Acid; D005934:Glucagon; D008765:Methylmalonyl-CoA Mutase