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

D. Blum; H. Dorchy; T. Mouraux; E. Vamos; Y. Mardens; A. Kumps; C. De Prez; P. Heimann; B. Fowler; R. Baumgartner; L. Bouwens; J. Van Gompel; G. Klöppel

doi:10.1007/BF00400240

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

D. Blum, H. Dorchy, T. Mouraux, E. Vamos, Y. Mardens, A. Kumps, C. De Prez, P. Heimann, B. Fowler, R. Baumgartner, L. Bouwens, J. Van Gompel, G. Klöppel

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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.

Original language	English
Pages (from-to)	352-357
Number of pages	6
Journal	Diabetologia
Volume	36
Issue number	4
DOIs	https://doi.org/10.1007/BF00400240
State	Published - Apr 1993
Externally published	Yes

Keywords

Congenital diabetes mellitus
absence of beta cells
methylmalonic acidaemia
mutase deficiency

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/BF00400240

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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.",

keywords = "Congenital diabetes mellitus, absence of beta cells, methylmalonic acidaemia, mutase deficiency",

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doi = "10.1007/BF00400240",

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volume = "36",

pages = "352--357",

journal = "Diabetologia",

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TY - JOUR

T1 - Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

AU - Blum, D.

AU - Dorchy, H.

AU - Mouraux, T.

AU - Vamos, E.

AU - Mardens, Y.

AU - Kumps, A.

AU - De Prez, C.

AU - Heimann, P.

AU - Fowler, B.

AU - Baumgartner, R.

AU - Bouwens, L.

AU - Van Gompel, J.

AU - Klöppel, G.

PY - 1993/4

Y1 - 1993/4

N2 - 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.

AB - 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.

KW - Congenital diabetes mellitus

KW - absence of beta cells

KW - methylmalonic acidaemia

KW - mutase deficiency

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DO - 10.1007/BF00400240

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IS - 4

ER -

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

Abstract

Keywords

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