Hepatic Glycogenoses among children– clinical and biochemical characterisation : Single Centre Study

Abstract Background Glycogen storage disease (GSD) is typified by early morning seizures. Absence of this results in delayed diagnosis, especially the non-GSD 1 group. Data is limited to few patients with unclear outcome. Objectives 1. Study the common presentation and types of GSD 2. Study the clinical and biochemical outcome 3. Review genetic mutations Methods Observational study from May 2016- April 2019 at metabolic clinic at our centre. Results Total of 30 patients were diagnosed with GSD. 10 were excluded -Fanconi-Bickel (3), Conclusion Awareness of GSD needs to improve among paediatricians and hepatologists. The most common symptoms are asymptomatic hepatomegaly and short stature. Dietary therapy with UCCS remains mainstay of treatment. Mixed hyperlipidemia is difficult to control despite good metabolic improvement. Role of Omega3fattyacid needs to be explored further. Genetic mutation analysis can assist with tailoring treatment and should get precedence over liver biopsy.