Glycogen storage disease (GSD) is typified by early morning seizures. Absence of this results in delayed diagnosis, especially the non-GSD 1 group. Data are limited to few patients with unclear outcome.1. Study the common presentation and types of GSD. 2. Study the clinical and biochemical outcome. 3. Review genetic mutations.Observational study from May 2016-April 2019 at metabolic clinic at our center.Total of 30 patients were diagnosed with GSD. Ten were excluded-Fanconi-Bickel (3) and <4 months follow-up (7). Data were analyzed for 20 patients (16 males). Mean age at presentation was 4.3 yrs. All had hepatomegaly, 90% had short stature, and 40% had early morning seizures. Mean follow-up was 22 months. There was a statistically significant improvement in metabolic parameters on treatment (mean)-fasting glucose from 50.4 to 79.5 mg/dl, SGPT from 416 to 199 U/L. Lipid profile showed reduction in triglycerides (318-225 mg/dl) but minimal increase in cholesterol (178-188 mg/dl). Mean weight centile improved from 14.1 to 20.3 and height centile from 2.3 to 7.9. Genetic testing confirmed types VI (3), III (3), IXa (1), IXc (1), and Ia (1). Liver biopsy confirmed GSD in 15/20. All were managed with uncooked corn starch. In addition, omega-3 fatty acid was used in 8/20 and high protein diet in 2 with GSD type III.Awareness of GSD needs to improve among pediatricians and hepatologists. The most common symptoms are asymptomatic hepatomegaly and short stature. Dietary therapy with uncooked corn starch remains mainstay of treatment. Mixed hyperlipidemia is difficult to control despite good metabolic improvement. Role of omega-3 fatty acid needs to be explored further. Genetic mutation analysis can assist with tailoring treatment and should get precedence over liver biopsy.
