Abstract
Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies. Clinical presentation, growth, and kidney outcome were assessed. All patients were evaluated for body mass index, blood parameters of metabolic control including uric acid, alanine, lactic acid, and triglycerides in blood. Kidney evaluation included creatinine clearance, microalbuminuria, citraturia, and calciuria as well as urine microalbumin/creatinine ratio.Results: Almost one third of GSD-I patients developed microalbuminuria. This was detected below 7 months of age in 36% of patients who required early treatment with ACEI with significant reduction in albuminuria. Kidney stones were present in 6% and were associated with hypercalciuria and hypocitraturia. Poor metabolic control reflected by hyperuricemia, lactic acidosis, and hyperalaninemia were noted only in patients who developed microalbuminuria.Conclusion: Glomerular injury may appear in early infancy in poorly controlled patients. Adequate metabolic control and ACEI therapy may improve kidney outcome in GSD I patients. Plasma alanine appears to be a promising and reliable marker reflecting metabolic control in GSD-I patients.
Highlights
Glycogen storage disease type I (GSD-I) is one of the most common glycogen storage disorders [1]
The aim of this study is to evaluate the outcome of kidney disease in a cohort of 32 patients with GSD-I, in addition to their biochemical profile, in particular, alaninemia
This was associated with seizures in 22%, while 12% were referred for isolated developmental delay
Summary
Glycogen storage disease type I (GSD-I) is one of the most common glycogen storage disorders [1]. It is inherited as autosomal recessive condition affecting glucose-6-phosphate metabolism. Two major subtypes are recognized: GSD type Ia, (GSD-Ia) caused by glucose-6- phosphatase (G6Pase) gene mutation leading to G6P deficiency and type Ib (GSSD-Ib) due to SLC37A4 gene mutation [2] due to defective glucose-6phosphate transporter (G6PT) activity. In GSD, the final steps of glycogenolysis and gluconeogenesis are blocked leading to an increase in cytoplasmic Glucose-6phosphate with hepatic and renal glycogen accumulation [3]. Several biochemical disturbances are subsequently observed with hypoglycemia upon short fasting and concomitant hyperlactic acidemia, due to the conversion of unutilized energy substrates into lactic acid [3]. Diagnosis of GSD-I relies on clinical and biochemical manifestations, in addition to enzymatic and/or genetic testing [5]
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