When Santoshi admitted her six-month-old son Sohan Sai to a hospital, she had no hope of his revival as he was suffering from seizure, breathing problems and other complications.
With proper diagnosis at the right time followed by appropriate treatment, a team of doctors at MyCure Women and Child Hospitals, was able to give Sohan a new lease of life.
Being diagnosed with Biotinidase deficiency, one of the rare metabolic and genetic disorders, Sohan has been given a three-week treatment. Now, he has recovered from the ailment.
Consultant neonatologist of the hospital Sai Sunil Kishore said at a conference here on Wednesday Biotinidase deficiency can be treated if it was detected early. The disorder affects one in 3,000 babies and parents should be able to identify signs such as respiratory problem and seizure and related complications and consider a metabolic screening for the child. “When Sohan came to hospital, he was in a critical condition. However, with the right treatment including dialysis and blood exchange transfusion followed by biotin supplements and special metabolic diet, he showed signs of improvement,” he said.
Dr. Sunil said not many were aware of the metabolic disorder and hence there’s a need to educate parents on the subject. “If the disorder is left untreated for long, the child can suffer developmental delay, mental disorder and further complications that can be life-threatening,” he said.
Consultant in foetal medicine M. Madhuri said there was a chance of recurrence of the genetic disorder in the subsequent pregnancy and hence genetic screening helps in diagnosing the problem.
