title: 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.affiliation: Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris Cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.forename: M
authors.initials: M
authors.lastname: Cuer
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: G
authors.initials: G
authors.lastname: Beaune
authors.forename: P
authors.initials: P
authors.lastname: Castelnau
authors.forename: M
authors.initials: M
authors.lastname: Kretz
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D000284:Administration, Oral; D001786:Blood Glucose / Q000378:metabolism; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy*; D003967:Diarrhea / Q000209:etiology; D016903:Drug Monitoring; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D006946:Hyperinsulinism / Q000209:etiology* / Q000378:metabolism; D007003:Hypoglycemia / Q000209:etiology* / Q000378:metabolism; D007223:Infant; D007328:Insulin / Q000097:blood; D008358:Mannose / Q000627:therapeutic use*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D010455:Peptides / Q000097:blood; D013927:Thrombosis / Q000209:etiology; D014168:Transferrin / Q000378:metabolism; D014839:Vomiting / Q000209:etiology
chemical_list: D001786:Blood Glucose; D007328:Insulin; D010455:Peptides; D014168:Transferrin; C050632:polypeptide C; D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose