HYDERABAD: A 23-day-old baby underwent liver transplant in a first of its kind case in the state. The baby was diagnosed with metabolic liver disease known as Galactosemia, a rare hereditary disorder. The child was discharged three weeks after surgery.
Caused by a single enzyme defect known as Galactose-1-phosphate uridylyltransferase (GALT), Galactosemia affects the body’s ability to convert galactose to glucose. Although an infant with Galactosemia appears normal at birth, within a weeks the baby starts losing appetite and starts vomiting excessively.
“Patients may even die without an established diagnosis. In the infant, biochemistry and genetic testing supported the diagnosis. The baby was diagnosed with respiratory distress, hypoglycemia (regular low blood sugar), jaundice, and failure to thrive after birth. Phototherapy was used to treat these conditions for three days, but when no improvement was noticed the baby was referred to us,” said Dr K Venugopal, who led the surgical team at Yashoda Hospitals.
The team found the infant to be nutritionally depleted and his weight was at 25th percentile for his age. “The baby had two siblings who succumbed to a liver ailment at two months and nine months. His father came forward to donate a part of his liver and was suitable,” said the doctor, adding this is the first transplant on such a small baby reported from this part of the world.
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