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Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Hossein Moravej1,2, Ruqaiah Altassan3, Jaak Jaeken4

  • 1Neonatal Research Center Shiraz University of Medical Sciences Shiraz Iran.

JIMD Reports
|February 20, 2020
PubMed
Abstract

Insights

Hypoglycemia is rare in Phosphomannomutase 2 deficiency (PMM2-CDG), but diazoxide effectively treats associated hyperinsulinism. Further research is needed to understand hypoglycemia

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation.
  • Hypoglycemia is a known complication in CDGs, but its occurrence and causes in PMM2-CDG are not well understood.

Purpose of the Study:

  • To investigate the frequency and etiology of hypoglycemia in PMM2-CDG patients.
  • To evaluate the efficacy of diazoxide treatment for hyperinsulinism in this population.

Main Methods:

  • Systematic literature review of confirmed PMM2-CDG patients with hypoglycemia.
  • Prospective follow-up of patients treated with diazoxide.

Main Results:

  • Hypoglycemia was reported in only 2.5% of 933 PMM2-CDG patients.
  • Hyperinsulinism was identified in 43% of hypoglycemic patients, with 70% responding well to diazoxide therapy.
  • Long-term diazoxide treatment was often necessary to maintain normoglycemia.

Conclusions:

  • Hypoglycemia is an infrequent but significant finding in PMM2-CDG.
  • Diazoxide-responsive hyperinsulinism has a favorable prognosis with medication.
  • Further prospective studies are warranted to explore underdiagnosis of hypoglycemia and its link to hyperinsulinism in PMM2-CDG.
Keywords:
CDGPMM2‐CDGcongenital disorder(s) of glycosylationdiazoxidehyperinsulinismhypoglycemiaphosphomannomutase 2

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