Abnormal fat distribution in PMM2-CDG

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

doi:10.1016/j.ymgme.2013.08.017

Abnormal fat distribution in PMM2-CDG

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

Medical Genetics

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	411-413
Number of pages	3
Journal	Molecular genetics and metabolism
Volume	110
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2013.08.017
State	Published - Nov 1 2013

Keywords

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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10.1016/j.ymgme.2013.08.017

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title = "Abnormal fat distribution in PMM2-CDG",

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.",

keywords = "Abnormal fat distribution, Congenital disorders of glycosylation, Hypoglycemia, PMM2-CDG",

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AU - Wolthuis, D. F.G.J.

AU - van Asbeck, E. V.

AU - Kozicz, T.

AU - Morava, E.

PY - 2013/11/1

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AB - 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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KW - Congenital disorders of glycosylation

KW - Hypoglycemia

KW - PMM2-CDG

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Abnormal fat distribution in PMM2-CDG

Abstract

Keywords

ASJC Scopus subject areas

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