Abnormal fat distribution in PMM2-CDG

D. F.G.J. Wolthuis, E. V. van Asbeck, T. Kozicz, E. Morava

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while normoglycemic patients showed this feature in 50% of the cases. This statistically significant difference suggests an etiological role of the insulin receptor in developing abnormal fat distribution in PMM2-CDG.

Original languageEnglish (US)
Pages (from-to)411-413
Number of pages3
JournalMolecular genetics and metabolism
Issue number3
StatePublished - Nov 1 2013


  • Abnormal fat distribution
  • Congenital disorders of glycosylation
  • Hypoglycemia
  • PMM2-CDG

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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