Renal Calculi as Initial Presenting Symptom of Glycogen Storage Disease (Type 1 A) in Early Infancy
- Resource Type
- Authors
- Anupam Sibal; Nida Mirza; Smita Malhotra
- Source
- Journal of Child Science. 10:e45-e47
- Subject
- Glycogen degradation
Renal stone
Glycogen
biology
business.industry
Physiology
Disease
urologic and male genital diseases
Early infancy
medicine.disease
Pathogenesis
chemistry.chemical_compound
chemistry
Pediatrics, Perinatology and Child Health
medicine
biology.protein
Glycogen storage disease
Surgery
business
Glycogen synthase
- Language
- ISSN
- 2474-5871
Glycogen storage diseases are a group of heterogeneous metabolic disorders that result from a defect in enzymatic pathway of either glycogen synthesis or glycogen degradation. Here we are reporting a case of glycogen storage diseases type 1 with renal stone as initial manifestation of disease at 2 months of age. There were case reports of recurrent renal calculi in older age group with this disease and considered to be arisen due to metabolic derangements. Although the exact mechanism of renal stones in glycogen storage disease is not clear, in this unique case occurrence of renal stones at 2 months of age suggests that the pathogenesis of renal calculi is probably multifactorial or a part of disease.