Clinical profile and outcome of glycogen storage disease in Indian children

Trop Doct. 2021 Apr;51(2):189-192. doi: 10.1177/0049475520961935. Epub 2020 Oct 27.


We aimed to determine the clinical profile and outcome of Indian children with glycogen storage disorders. Ours was a retrospective study from 2005 to 2018 in 36 children diagnosed on the basis of a liver biopsy. Most (77.7%) presented with abdominal swelling but a quarter with convulsion, four of whom had documented hypoglycaemia associated, doll-like facies or developmental delay. Diarrhoea was found in four patients, ascites in two and portal hypertension in one. One child died, and over half were unfortunately lost to follow-up, though the rest had recurrent seizures, three more developed neutropenia, two recurrent infections, one portal hypertension with epistaxis, one nephrocalcinosis and liver adenoma. Liver function improved in six (37.5%) with normalisation of triglycerides, and four of serum transaminases.

Keywords: Children; India; glycogen storage disease.

MeSH terms

  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Glycogen Storage Disease / therapy*
  • Humans
  • India
  • Retrospective Studies
  • Treatment Outcome