Clinical and Laboratory Observations
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations,☆☆

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Abstract

Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed. (J Pediatr 2002;140:781-3)

Section snippets

Methods

Patients were admitted to the General Clinical Research Center (GCRC) for biochemical monitoring as outlined by Aynsley-Green et al.1 Hourly measurements of plasma glucose and blood lactate concentrations were performed. After the plasma glucose concentration decreased to <50 mg/dL, glucagon (0.03 mg/kg) was administered intravenously, and plasma glucose and blood lactate concentrations were measured every 15 minutes for 1 hour. Thereafter, patients had a mixed meal with hourly measurements of

Case report 1

A 5-year-old boy was found to have glucosuria on a routine urinalysis in the absence of polyuria, polydipsia, polyphagia, and weight loss. He had normal plasma electrolyte and glucose concentrations and no evidence of acidosis. Because of a family history of type 1 diabetes mellitus, the family was instructed to monitor blood glucose concentrations by using a blood glucose meter and to screen each urine sample for ketones and glucose. Blood glucose monitoring revealed occasional hypoglycemia in

Case report 2

A 9-year-old girl had glucosuria and ketonuria during evaluation of a mild febrile illness. Laboratory evaluation demonstrated normal plasma electrolyte and glucose concentrations without acidosis. Subsequent blood glucose and urine monitoring revealed fasting ketotic hypoglycemia associated with postprandial hyperglycemia. She was growing at the 5th and 10th percentiles, respectively, for height and weight. Her physical examination and laboratory evaluations were otherwise unremarkable. The

Discussion

GSD0 was initially described as a devastating disorder characterized by fasting hypoglycemia, seizures, and severe developmental delay.2 Aynsley-Green et al1 expanded the clinical phenotype to include small for gestatational age, morning drowsiness, lethargy, and growth failure. We describe two asymptomatic children with confirmed GSD0 who had glucosuria and hyperglycemia.

Because of the varied presentation of the disease, it is likely that GSD0 is underdiagnosed. Postprandial hyperglycemia and

Acknowledgements

The authors thank Ms Cindy Georges, Mrs Jennifer Blish, Ms Karen Leafe, the staff of the GCRC, and the technologists in the Endocrinology laboratory for their contributions to the care of the patients.

References (12)

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    Usually hypoglycemia is found in laboratory tests performed during differential diagnosis process [5]. In general, GSD 0 has no impact on physical or mental development, only some children may have a mild growth delay [5]. Alike other hepatic glycogenosis, the goal of management for GSD 0 is to prevent hypoglycemia by avoiding fasting.

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Supported by a Clinical Research Center Grant from the Public Health Service Division of Research Resources (National Institutes of Health M01RR02172) and from the Children's Hospital Glycogen Storage Disease Research Fund. Dr Weinstein was supported by the Clinical Investigator Training Program: Beth Israel Deaconess Medical Center—Harvard/MIT Health Sciences and Technology, in collaboration with Pfizer, Inc. B. E. B. and D. A. W. contributed equally to this work.

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Reprint requests: David A. Weinstein, MD, Division of Endocrinology, Childreny's Hospital Boston, 300 Longwood Ave, Boston, MA 02115.

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