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

Journal of Nepal Paediatric Society

Bindu T Nair¹  Swathi Shetty²  Arun Harith³  Sajith Surendran⁴  Rama Krishna Sanjeev⁵ 

[1] Associate Professor, Department of Paediatrics, Army College of Medical Science, New Delhi;Centre for Human Genetics;Former Professer and HoD, Department of Biochemistry, Army College of Medical Science, New Delhi;Resident, Army College of Medical Science, New Delhi;Senior Advisor of Paediatrics and former Professorand HoD, Army College of Medical Science, New Delhi

关键词: GSD;    GSD-1b;    glucose-6-phosphatase;    PROVEAN;   

DOI  :  10.3126/jnps.v36i1.12404

学科分类：儿科学

来源: Nepal Paediatric Society

【 摘 要 】

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.

【 授权许可】

Unknown