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 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.
Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans LA 70112, USA.
D F G J
DF
Wolthuis
E V
EV
van Asbeck
T
T
Kozicz
E
E
Morava
D000273:Adipose Tissue / Q000473:pathology*; D050154:Adiposity; D001786:Blood Glucose; D018981:Congenital Disorders of Glycosylation / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007328:Insulin / Q000097:blood
D001786:Blood Glucose; D007328:Insulin
Abnormal fat distribution; Congenital disorders of glycosylation; Hypoglycemia; PMM2-CDG