Glycogen Storage Disease 1b: Diagnosis and Workup of a Novel Mutation

Authors

  • Rama Krishna Sanjeev Senior Advisor of Paediatrics and former Professor and HoD, Army College of Medical Science, New Delhi
  • Swathi Shetty Centre for Human Genetics
  • Arun Harith Former Professer and HoD, Department of Biochemistry, Army College of Medical Science, New Delhi
  • Bindu T Nair Associate Professor, Department of Paediatrics, Army College of Medical Science, New Delhi
  • Sajith Surendran Resident, Army College of Medical Science, New Delhi

DOI:

https://doi.org/10.3126/jnps.v36i1.12404

Keywords:

GSD, GSD-1b, glucose-6-phosphatase, PROVEAN

Abstract

Glycogen Storage diseases (Glycogenoses) are a diverse group of disorders, numbering more than 12, resulting from deficiencies of various enzymes & transport proteins in the pathways of glycogen metabolism. GSD 1 is caused by absence or deficiency of glucose-6-phosphatase activity in the liver, kidney or intestinal mucosa. In GSD 1(b), the enzyme which transports Glucose-6-Phosphate across the microsomal membrane is defective, thereby resulting in accumulation of Glycogen. The clinical features of 1a & 1b are similar with fasting hypoglycaemia, hepatomegaly, growth retardation and metabolic abnormalities except for the presence of neutropenia with recurrent gingivitis in GSD 1b. A genetic diagnosis solves this conundrum with the added benefit of antenatal diagnosis of future pregnancies & identification of carrier state in patients. We report the work up of an infant with suspected GSD where a novel mutation with heterozygous carrier state in the parents was diagnosed by genetic testing.

J Nepal Paediatr Soc 2016;36(1):85-87.

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Author Biography

Swathi Shetty, Centre for Human Genetics

Senior Genetic Consultant

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Published

2016-10-22

How to Cite

Sanjeev, R. K., Shetty, S., Harith, A., Nair, B. T., & Surendran, S. (2016). Glycogen Storage Disease 1b: Diagnosis and Workup of a Novel Mutation. Journal of Nepal Paediatric Society, 36(1), 85–87. https://doi.org/10.3126/jnps.v36i1.12404

Issue

Vol. 36 No. 1 (2016)

Section

Brief Reports/Case Reports/Case Series

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