Abnormal fat distribution in PMM2-CDG

作者：Wolthuis D F G J; van A**eck E V; Kozicz T; Morava E^*

来源：Molecular Genetics and Metabolism, 2013, 110(3): 411-413.

DOI：10.1016/j.ymgme.2013.08.017

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

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. %26lt;br%26gt;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. %26lt;br%26gt;This statistically significant difference suggests an etiological role of the insulin receptor in developing abnormal fat distribution in PMM2-CDG.

• 出版日期2013-11