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Published on: August 16, 2020
Abnormal fat distribution in PMM2-CDG
D F G J Wolthuis1, E V van Asbeck, T Kozicz
1Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans LA 70112, USA.
Abstract:
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.
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