Dr Aarti Kinikar
Professor at Department of Paediatrics, B J Medical College and Sassoon General Hospital, Pune
Galactosemia type 1 is a rarely diagnosed, potentially life-threatening disease that results from the body’s inability to metabolise galactose, a sugar found in all foods that contain milk. One in 10,000 children suffer from this problem and unsurprisingly, parents are unaware of it.
Early this year, a two-month-old boy was brought to the Pediatric Intensive Care Unit at the government-run Sassoon General Hospital with jaundice and abdominal bloating. He had been suffering from the problem for a month and had developed cough with rapid breathing three days prior to landing at the hospital.
An examination showed that he had respiratory distress, peculiar odour to his breath (fetor hepaticus), deep yellow icterus and swelling of the legs. Tests also revealed increase in the size of liver and spleen.
Liver function tests revealed increased bilirubin (causing jaundice) with elevated liver enzymes suggesting injury to liver cells. Urine for reducing substances was positive, which raised a strong suspicion of Galactosemia.
A special test, the GALT(Gal1 Phosphate Uridyl Transferase) assay (done to confirm diagnosis of Galctosemia) was performed which read 0.05 microg/L (very low).
The child’s treatment included putting him on a ventilator and symptomatic management of liver disease. The patient was removed from the ventilator on the fourth day of admission and discharged.
Classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest galactose. If a child with GALT eats galactose, undigested sugars build up in the blood, rather than being used for energy, and if left untreated, can cause seizures, serious blood infections, liver damage and even death. When the condition is identified early in life and proper treatment is begun immediately, children with GALT often can lead healthy lives.
All newborn babies should be screened for this condition as early diagnosis prevents disease and death due to liver disease. The government should also consider performing this test on every newborn and also include tests for hypothyroidism.