Early Diagnosis and Treatment may Prevent the Development of Complications in an Adult Patient with Glycogen Storage Disease Type .IOTA.a

Abstract

Type Ιa glycogen storage disease (GSD Ιa) is caused by the deficiency of glucose-6-phosphatase activity, which results in metabolic disorder and organ failure, including renal failure. GSD Ιa patients are generally diagnosed at a median age of 6 months. However, we report a 20-year-old Japanese female with newly diagnosed GSD Ιa. The renal disorder of GSD Ιa is considered to be produced by glomerular hyperfiltration, TGF-β expression which is induced by renin-angiotensin-aldosterone system (RAS) and uric acid, and the increase in both small dense LDL and modified LDL which is characteristic of GSD Ιa as well as hypertriglyceridemia. With the administration of intensive therapies, including angiotensin type 1-receptor blocker and some lipid lowering drugs, along with traditional dietary therapy, daily proteinuria of the patient improved from 2.1 g to 0.78 g. Although the patients of GSD Ιa should receive an early and accurate diagnosis and effective therapies before the age of 1 year, the combination of traditional dietary therapies and intensive therapies may have therapeutic potential for the complications of adult patients. In this report, we describe the management of renal disease and the characteristic features of this metabolic disorder.

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

“…Chronic lactic acidosis, hyperuricemia, and dyslipidemia are well-known contributing factors to renal insufficiency in GSD Ia, and therefore, patients showing poor compliance with the diet should be closely monitored for microalbuminuria through regular check-ups [23,24]. Early detection of microalbuminuria and treatment with angiotensin-converting enzyme inhibitors can delay renal deterioration.…”

Neonatal Glycogen Storage Disease Ia

“…1 GSD Ia presenting as neonatal hypoglycemia is uncommon, as most GSD Ia patients are diagnosed at a median age of 3e6 months. 2 Here, we describe a case of neonatal GSD Ia. The diagnosis was confirmed by gene analysis.…”

Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature

“…A protuberant abdomen, hypoglycaemic symptoms, epistaxis, and diarrhoea are the most common symptoms, and HUA, hyperlipidaemia, and hyperlactaemia are almost always present. Early diagnosis and treatment are important for reducing the damaging effects on organs and improving quality of life [ 22 ]. Non-invasive molecular genetic testing through gene sequencing of the G6PC genes can be used to confirm the diagnosis.…”