Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

Abstract

We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.

• Authors: P de Lonlay, M Cuer, S Vuillaumier-Barrot, G Beaune, P Castelnau, M Kretz, G Durand, J M Saudubray, N Seta
• Journal: The Journal of pediatrics (J Pediatr) Vol. 135 Issue 3 Pg. 379-83 (Sep 1999) ISSN: 0022-3476 [Print] United States
• PMID: 10484808 (Publication Type: Case Reports, Journal Article)

Chemical References

• Blood Glucose
• Insulin
• Peptides
• Transferrin
• polypeptide C
• Mannose-6-Phosphate Isomerase
• Mannose

Topics

• Administration, Oral
• Blood Glucose (metabolism)
• Congenital Disorders of Glycosylation (classification, complications, diagnosis, drug therapy)
• Diarrhea (etiology)
• Drug Monitoring
• Female
• Hepatomegaly (etiology)
• Humans
• Hyperinsulinism (etiology, metabolism)
• Hypoglycemia (etiology, metabolism)
• Infant
• Insulin (blood)
• Mannose (therapeutic use)
• Mannose-6-Phosphate Isomerase (deficiency)
• Peptides (blood)
• Thrombosis (etiology)
• Transferrin (metabolism)
• Vomiting (etiology)