Publication: Glycogen Storage Disease 1b: Diagnosis and Workup of a Novel Mutation
Files
Date
2016
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 85 - 87
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Keywords
GSD, GSD-1b, glucose-6-phosphatase, PROVEAN
Identifier
https://doi.org/10.3126/jnps.v36i1.12404