Abstract
Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX—from childhood to adulthood, managed by one referral center. Patients and methods: Thirty adult patients with hepatic GSD were included in the study. A retrospective chart review of patients’ medical records has been performed. Results: During the long-term follow-up, the most frequent complications observed in a group of 14 GSD I patients were nephropathy with blood hypertension (10/14), hyperuricemia (8/14), and development of hepatocellular adenomas (HCA; 5/14). All individuals but four presented with normal height. Two patients with GSD Ib suffered from inflammatory bowel disease (IBD). Nine (64%) GSD I patients were in balanced metabolic condition at the age of 18. Regarding GSD III/VI/IX, the most frequent complication was short stature observed in 5 out of 16 patients. All patients but one with GSD VI were in balanced metabolic condition at the age of 18. Conclusion: The long-term outcomes of patients with GSD depend mainly on proper (adjusted to each type of GSD) dietary management and patient compliance. However, in GSD type I, even proper management does not eliminate all long-term complications in adulthood.
Highlights
Glycogen storage disorders (GSD) are rare inborn errors of carbohydrate metabolism; there are eight liver types: Ia and b, III, IV, VI, IX, XI, and 0, respectively
The majority (5/8) of patients with type Ia were diagnosed within their first year of life, and the mean age of glycogen storage disease (GSD) Ib diagnosis was approximately 3 (Table 1)
All patients had dietary management introduced once the diagnosis was established, and CS consumption commenced since the age of 6–8 months
Summary
Glycogen storage disorders (GSD) are rare inborn errors of carbohydrate metabolism; there are eight liver types: Ia and b, III, IV, VI, IX, XI, and 0, respectively. Each type is a distinct entity with a distinct metabolic block (deficiency of a different enzyme). Typical biochemical abnormalities include hyperlipidermia and hyperuricemia [2]. The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX—from childhood to adulthood, managed by one referral center. Results: During the long-term follow-up, the most frequent complications observed in a group of 14 GSD I patients were nephropathy with blood hypertension (10/14), hyperuricemia (8/14), and development of hepatocellular adenomas (HCA; 5/14).
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