Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

• Published in: The Journal of pediatrics Vol. 135; no. 6; pp. 775 - 781
• Main Authors: Babovic-Vuksanovic, Dusica, Patterson, Marc C., Schwenk, W.Frederick, O’Brien, John F., Vockley, Jerry, Freeze, Hudson H., Mehta, Darshini P., Michels, Virginia V.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.12.1999; Elsevier
• Subjects: Biological and medical sciences; Child, Preschool; Congenital Disorders of Glycosylation - diagnosis; Congenital Disorders of Glycosylation - diet therapy; Congenital Disorders of Glycosylation - genetics; Congenital Disorders of Glycosylation - metabolism; Dietary Supplements; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Female; Humans; Hypoglycemia - etiology; Hypoglycemia - metabolism; Mannose - therapeutic use; Medical sciences; Point Mutation; Sequence Analysis, DNA; Tumors. Hypoglycemia; PMM; CDGS; IEF; PMI; Human; Preschool age; Nervous system diseases; Glycoprotein; Clinical form; Metabolic diseases; Hypoglycemia; Enzymopathy; Genetic disease; Case study; Symptomatology; Severe; Child; Carbohydrate deficient glycoprotein syndrome
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(99)70103-4

We describe clinical, biochemical, and molecular findings in a 2 ½-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities. (J Pediatr 1999;135:775-81)