Abstract
Background and Aim: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. Among the many types of GSDs, hepatic involvement characterizes the types I, III, VI, and IX. There is paucity of Indian studies on clinical presentations and genetic spectrum of hepatic GSDs. In this context, we have conceptualized this study to describe the clinical profile and genetic spectrum of hepatic GSDs among children attending a tertiary care teaching centre in Kerala. Methods: Prospectively collected clinical data of eleven children (less than or equal to 12 years of age) with hepatic GSDs diagnosed during February 2014 to June 2021 were retrieved and analyzed. All children with clinically suspected GSD underwent fasting blood glucose and lipid profile, liver function test, uric acid, creatine phosphokinase, complete blood count, lactate, ultrasound abdomen and liver biopsy as indicated. Genetic studies were offered to all at first visit and were done depending on the affordability. All were managed with uncooked corn starch. Results: 10 children were Keralites in ethnicity and 36 % were born of consanguineous parentage. Mean age at presentation was 37.2 months and M: F ratio was 5:6. Clinical presentation included asymptomatic hepatomegaly (100%), short stature [height < 5th centile World Health Organization growth chart] (81%), motor delay (45 %) and early morning seizures (36 %). On initial investigation, mean AST / ALT were 325/375 and mean triglyceride was 428. All had hepatomegaly and increased echogenicity of liver in ultrasound abdomen. Genetic testing was done in 08 children and confirmed types VI (n=4), IXb (2), IIIa (n=1), and Ia (n=1). Conclusion: The most common presentation was asymptomatic hepatomegaly (100%) and short stature (81%).In this study all four types of hepatic GSDs were identified using genetic studies and the commonest one was GSD type VI (50%).
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