Mumbai Medical Marvel: Doctors Successfully Diagnose And Treat Rare Metabolic Disorder In One-Year-Old Child

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.

Investigations Pointed to a Metabolic Disorder

During examination, Dr. Kulkarni found an enlarged liver and ordered extensive tests. Blood investigations revealed high liver enzymes, triglycerides, uric acid, and lactic acid levels. An ultrasound confirmed liver swelling. With a strong suspicion of a metabolic condition, he recommended genetic testing, which confirmed GSD Ia a disorder in which the body cannot break down glycogen, causing recurrent hypoglycaemia.

Specialised Dietary Therapy Achieved Rapid Stabilisation

After diagnosis, the child was stabilised with intravenous glucose and later shifted to a cornstarch-based dietary therapy that provides a slow, steady glucose release. The hospital team also trained the parents to prepare, administer, and monitor the specialised diet at home.

Doctors Highlight Importance of Early Recognition

“Glycogen Storage Disease Type 1a requires high clinical suspicion and precise diagnosis,” said Dr. Kulkarni. “Differentiating it from other conditions with similar symptoms was challenging. Early recognition, continuous glucose monitoring, and careful dietary management were essential for stabilising the child.”

Child Improves and Is Discharged in Two Days

The patient showed marked improvement within days. Once his blood sugar stabilised and the parents were confident in managing his diet, he was discharged after two days of hospitalisation.

Multidisciplinary Approach Ensured Strong Recovery

Dr. Zubin Pereira, Facility Director, said the case highlights how evidence-based nutrition therapy, advanced diagnostics, and coordinated multidisciplinary care can help children with rare metabolic disorders achieve healthy growth and development.