https://www.ncbi.nlm.nih.gov/pubmed/32166118 Glycogen storage disease
Clin Exp Hepatol. 2020 Feb;6(1):9-12. doi: 10.5114/ceh.2020.93050. Epub 2020 Feb 17.
Prevalence and clinical profile of glycogen storage diseases in children from Western India.
Shah I1, Tolani D1, Shetty NS1, Karkare V1.
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Abstract

AIM OF THE STUDY:
To determine the prevalence and clinical profile of glycogen storage diseases (GSD) in children in western India.

MATERIAL AND METHODS:
This retrospective analysis was conducted over a period of 7 years from 2006 to 2012. All children diagnosed with GSD on liver biopsy were included in the study. Their clinical history, examination, biochemical profile and outcome were noted.

RESULTS:
Of 751 children, 18 (2.4%) were clinically diagnosed with GSD. Mean age at presentation was 2.3 ±1.3 years. Male : female ratio was 1 : 1. The main presenting features were abdominal distension in 15 (83.3%) patients, hepatomegaly in all 18 (100%), splenomegaly in 11 (61.1%) and jaundice in 2 (11.1%) patients. Four (22.2%) patients had delayed development. Four (22.2%) patients were siblings to an older affected child. Only 1 (5.6%) patient had portal hypertension and 2 (11.1%) had ascites. Only 1 (5.6%) patient had elevated bilirubin levels, 17 (94.4%) had elevated serum glutamic-oxaloacetic transaminase (SGOT) and all 18 (100%) patients had elevated serum glutamic-pyruvic transaminase (SGPT) levels. Nine (69.3%) patients of the 13 tested had acidosis, 1 (9.1%) had elevated uric acid, 2 (11.1%) had neutropenia, 8 (44.4%) experienced hypoglycemia, 4 (22.2%) patients had nephromegaly and only 1 patient showed evidence of cirrhosis in the liver biopsy. Fifteen (83.3%) patients were short. Three out of 6 patients tested had hypertriglyceridemia (50%). One (5.6%) patient died, 9 (50%) patients were lost to followup and the remaining 8 (44.4%) patients continued regular follow-up.

CONCLUSIONS:
Metabolic acidosis, hypertriglyceridemia, short stature, and hypoglycemia are major problems in children with GSD. Most of the patients are referred late at the time of presentation.