Palghar, Maharashtra: A four-day-old infant admitted to Wockhardt Hospitals, Mira Road, with dangerously high bilirubin levels (24 mg/dL) has made a remarkable recovery following the timely diagnosis of a rare genetic disorder - Galactosemia.
The baby, born outside Mumbai, had been discharged from another hospital without any signs of illness. However, the family's tragic history, a previous sibling had died from severe umbilical bleeding linked to liver dysfunction, prompted the medical team, led by Dr. Nitu Mundhra, Consultant Neonatologist and Pediatrician, to investigate further.
"Given the baby's critical bilirubin levels and family history, we suspected a more serious issue than routine jaundice," said Dr. Mundhra. "Liver function tests showed disproportionately abnormal results."
Though initial tests were inconclusive, persistent efforts led to the diagnosis of Galactosemia by day seven, a rare inherited disorder that prevents the body from metabolising galactose found in milk. Continued feeding with milk had worsened the baby’s condition, risking liver failure and brain damage.
Immediate dietary changes, including switching to lactose-free soya formula, led to a rapid improvement. Bilirubin levels dropped significantly within two days, and liver function normalized within a week.
"Without this intervention, the baby might have needed a liver transplant or suffered permanent brain damage," Dr. Mundhra noted.
This case highlights the life-saving importance of newborn metabolic screening, which can detect such conditions with just a few drops of blood. While not yet mandatory in India, experts at Wockhardt Hospitals advocate for its universal implementation.
"For parents, it’s not about statistics—it’s about their one precious child," Dr. Mundhra said.
