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Related Experiment Video

Updated: May 7, 2026

Isolation of Adipogenic and Fibro-Inflammatory Stromal Cell Subpopulations from Murine Intra-Abdominal Adipose Depots
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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.

Molecular Genetics and Metabolism
|September 26, 2013
PubMed
Summary
This summary is machine-generated.

Abnormal fat distribution in PMM2-CDG is linked to hormone issues. Hypoglycemia/hyperinsulinism significantly increases the likelihood of this fat distribution, suggesting an insulin receptor role.

Keywords:
Abnormal fat distributionCongenital disorders of glycosylationHypoglycemiaPMM2-CDG

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Area of Science:

  • Biochemistry
  • Endocrinology
  • Genetics

Background:

  • Phosphomannomutase-2 Deficiency Congenital Disorder (PMM2-CDG) is a rare genetic disorder.
  • Abnormal fat distribution is a recognized clinical feature of PMM2-CDG.
  • Perinatal hormone regulation is crucial for normal development and metabolic homeostasis.

Purpose of the Study:

  • To investigate the association between abnormal fat distribution and perinatal hormone regulation in PMM2-CDG.
  • To explore the comorbidity of hypoglycemia/hyperinsulinism with fat distribution abnormalities in PMM2-CDG patients.

Main Methods:

  • Retrospective analysis of 32 patients diagnosed with PMM2-CDG.
  • Assessment of clinical data regarding hypoglycemia/hyperinsulinism and fat pad distribution.
  • Statistical comparison between normoglycemic and hypoglycemic/hyperinsulinemic patient groups.

Main Results:

  • Ninety percent of PMM2-CDG patients with hypoketotic hypoglycemia and/or hyperinsulinism exhibited abnormal fat distribution.
  • Fifty percent of normoglycemic PMM2-CDG patients displayed abnormal fat distribution.
  • A statistically significant difference in fat distribution was observed between the two groups.

Conclusions:

  • Abnormal fat distribution in PMM2-CDG is strongly associated with hypoglycemia/hyperinsulinism.
  • These findings suggest a potential etiological role for the insulin receptor in the development of abnormal fat distribution in PMM2-CDG.
  • Further research into the molecular mechanisms linking insulin signaling and fat distribution in PMM2-CDG is warranted.