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

Arun Harith,Bindu T Nair,Rama Krishna Sanjeev,Sajith Surendran,Swathi Shetty

doi:10.3126/jnps.v36i1.12404

Arun Harith, Bindu T Nair + Show 3 more

Open Access

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

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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.

Highlights

Glycogen Storage Disease (GSD) Type lb is an autosomal recessive disease in which glucose 6-phosphate, a product of metabolic cleavage of glycogen, cannot be transported to the inner surface of the microsome due to a deficiency of glucose 6-phosphate translocase[1]
We report a case in which patient’s DNA was used to perform PCR and DNA sequencing tests to look for the presence of mutation in the gene SLC37A4 which causes GSD 1b
A 10 month old male child born of second degree consanguineous marriage was evaluated for progressive abdominal distension, failure to thrive and seizures

Summary

Introduction

Glycogen Storage Disease (GSD) Type lb is an autosomal recessive disease in which glucose 6-phosphate, a product of metabolic cleavage of glycogen, cannot be transported to the inner surface of the microsome due to a deficiency of glucose 6-phosphate translocase[1]. We report a case in which patient’s DNA was used to perform PCR and DNA sequencing tests to look for the presence of mutation in the gene SLC37A4 which causes GSD 1b. The child was suspected to have glycogen storage disorder based on gradual abdominal distension, history of convulsions, massive hepatomegaly, hypoglycemia, hypertriglyceridemia and hypercholesterolemia.

Results

Conclusion