Fructose Metabolism Defects in Indian Children - Uncommon or Under-reported? - a Case Series

Abstract

Objective − The objective of this case series is to report the varied manifestations of fructose metabolic defects across various age groups in Indian children.

Case Series − We report 3 cases of fructose intolerance (1 male, 2 female) presenting at 17 months, 3.3 years and 10 months, with hypoglycaemia, recurrent metabolic acidosis, and abdominal distension with hepatomegaly, respectively. Weight was more affected than height in all of them: 1 child had hypoglycaemia and 2 of them had metabolic acidosis. Genetic tests confirmed the diagnosis with 2 patients having mutations in the FBP-1 gene and 1 mutation in the ALDO-B gene. Catch up growth was documented with resolution of symptoms in all with a fructose free diet.

Conclusion − Fructose metabolic defect is a wide spectrum disorder which should be kept in mind in children with failure to thrive, recurrent hypoglycaemia and/or metabolic acidosis.