Background and aims
Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder, caused by deficient activity of glucose-6-phosphatase-α. It produces fasting induced hypoglycemia and hepatomegaly, usually manifested in the first semester of life. Besides, it is also associated with growth delay, anemia, platelet dysfunction, osteopenia and sometimes osteoporosis. Hyperlipidemia and hyperuricemia are almost always present and hepatocellular adenomas and renal dysfunction frequent late complications.
The authors present a report of five adult patients with GSD Ia followed in internal medicine appointments and subspecialties.
Four out of five patients were diagnosed in the first 6 months of life, while the other one was diagnosed in adult life after the discovery of hepatocellular adenomas. In two cases genetic tests were performed, being identified the missense mutation R83C in one, and the mutation IVS4-3C > G in the intron 4 of glucose-6-phosphatase gene, not previously described, in the other. Growth retardation was present in 3 patients, and all of them had anemia, increased bleeding tendency and hepatocellular adenomas; osteopenia/osteoporosis was present in three cases. All but one patient had marked hyperlipidemia and hyperuricemia, with evidence of endothelial dysfunction in one case and of brain damage with refractory epilepsy in another case. Proteinuria was present in two cases and end-stage renal disease in another case. There was a great variability in the dietary measures; in one case, liver transplantation was performed, with correction of the metabolic derangements.
Hyperlipidemia is almost always present and only partially responds to dietary and drug therapy; liver transplantation is the only definitive solution. Although its association with premature atherosclerosis is rare, there have been reports of endothelial dysfunction, raising the possibility for increased cardiovascular risk in this group of patients. Being a rare disease, no single metabolic center has experience with large numbers of patients and the recommendations are based on clinical experience more than large scale studies.
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- GSD I:
Glycogen storage disease type I
Continuous nocturnal gastric drip feeding
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This case report describes five patients followed in internal medicine appointments and subspecialties. The author would like to thank the clinicians responsible for their follow up and for the information provided regarding each one, namely from neurology, nephrology, dyslipidemia and hepatic transplant appointments during follow up at Pediatric Hospital and Coimbra University Hospital.
The authors state no competing interests are present.
PC wrote the manuscript; PC was responsible for the follow up of one of the patients before referral to subspecialty appointment; NS was responsible for the follow up of four patients and JP was responsible for the follow up of one patient. PD, LS and JC provided scientific support and revised the article. PMSC serves as garantor for the article. All authors read and approved the final manuscript.
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Carvalho, P.M.S., Silva, N.J.M.M., Dias, P.G.D. et al. Glycogen Storage Disease type 1a – a secondary cause for hyperlipidemia: report of five cases. J Diabetes Metab Disord 12, 25 (2013). https://doi.org/10.1186/2251-6581-12-25
- Glycogen storage disease type Ia