Abnormal fat distribution in PMM2-CDG

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...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2013-11, Vol.110 (3), p.411-413
Main Authors: Wolthuis, D.F.G.J., van Asbeck, E.V., Kozicz, T., Morava, E.
Format: Article
Language:English
Subjects:
Abnormal fat distribution
Adipose Tissue - pathology
Adiposity
Blood Glucose
Congenital disorders of glycosylation
Congenital Disorders of Glycosylation - metabolism
Congenital Disorders of Glycosylation - pathology
Humans
Hypoglycemia
Insulin - blood
PMM2-CDG
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Summary: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. •Abnormal fat distribution is a common feature of PMM2-CDG.•Many regulators of fat distribution are glycosylated.•We evaluated status of fat distribution and hypoglycemic events in PMM2-patients.•There is a significant correlation between abnormal fat distribution and hypoglycemia.•Insulin receptor may play a role in developing abnormal fat distribution in CDG1a.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.08.017