Mumbai: A one-year-old boy suffering from Glycogen Storage Disease Type 1a (GSD Ia), a rare inherited metabolic liver disorder, has been successfully diagnosed and treated, offering a major breakthrough for the family. The condition affects only 1 in 1,25,000 children worldwide and can lead to severe complications if not identified early.

Symptoms Prompted Urgent Medical Evaluation

The child was treated at Narayana Health SRCC Children’s Hospital. Born full-term via caesarean section and initially healthy, he began developing recurrent fevers, lethargy, poor weight gain, and progressive abdominal swelling by six months of age. Concerned, his parents sought medical help, leading to an evaluation by Dr. Aditya Kulkarni, Consultant, Paediatric Gastroenterology and Hepatology.

Investigation

See Full Page