Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome …
P de Lonlay, M Cuer, S Vuillaumier-Barrot… - The Journal of …, 1999 - Elsevier
P de Lonlay, M Cuer, S Vuillaumier-Barrot, G Beaune, P Castelnau, M Kretz, G Durand…
The Journal of pediatrics, 1999•ElsevierWe 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 …
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 …
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. (J Pediatr 1999;135:379-83)
Elsevier