Mumbai: Narayana Health SRCC Children’s Hospital, Mumbai, has successfully diagnosed and treated a one-year-old boy, suffering from a rare inherited liver disorder known as Glycogen Storage Disease Type 1a (GSD Ia).
The one year old boy, born full-term by caesarean section, weighed approximately 2.3 kilograms at birth and appeared quite healthy initially. When he was around six months old, he began experiencing frequent fevers, lethargy, and a progressively swollen abdomen while his parents also started noticing poor weight gain in the child.
He was examined by Dr Aditya Kulkarni, Consultant, Paediatric Gastroenterology and Hepatology, Narayana Health SRCC Children’s Hospital, Mumbai, who found the child’s liver enlarged and ordered further investigations. Blood tests revealed high liver enzymes, triglycerides, uric acid, and lactic acid levels, while ultrasound imaging confirmed liver swelling. With a strong clinical suspicion of a metabolic disorder, Dr Aditya advised genetic testing, which confirmed the diagnosis of Glycogen Storage Disease Type 1a. This condition is very rare and it affects only 1 in every 1,25,000 children worldwide.
On confirmation of the diagnosis, the child was stabilised with intravenous glucose and later started on a special cornstarch-based dietary therapy. This specialised diet, frequently monitored, made sure that there was a continuous and timely release of glucose to prevent a sudden drop in blood sugar levels. The child’s parents were also taught how to prepare and monitor this diet at home.
Dr Aditya Kulkarni said, “Glycogen Storage Disease Type 1a is a rare metabolic disorder that requires a high degree of clinical suspicion and precise diagnosis. The main challenge was differentiating this disease from other conditions that can also cause fever, enlarged abdomen and high blood lipids. Parallel testing ruled out severe immune disorders. The dietary plan was carefully introduced to avoid any digestive upset and to ensure safe blood sugar levels. Early recognition, continuous glucose monitoring, and meticulous dietary management using cornstarch therapy were essential in stabilising the child.”
The one-year-old child showed a positive response to the treatment provided to him and showed improvement within days. He was discharged after two days of hospitalisation, once his blood sugar stabilised and his parents were comfortable enough managing the dietary schedule.
Dr Zubin Pereira, Facility Director, Narayana Health SRCC Children’s Hospital, Mumbai, added, “This case demonstrates how evidence-based nutrition therapy, combined with vigilant multidisciplinary follow-up, can ensure a normal developmental trajectory. It also reflects how advanced diagnostics, expert paediatric care, and a dedicated team approach can turn even the rarest and most complex conditions into stories of hope. Our hospital continues to uphold its mission of delivering world-class, compassionate care to every child in need.”