Citrullinaemia is successfully treated in India.

A four year old boy Rishi suffering from Citrullinaemia was successfully treated with a complex liver transplant procedure in India. His mental and physical growth was retarded by Citrullinaemia a condition which is rare in the world and seen in one only about 60,000 children across the globe. Citrullinaemia is characterized by a deficiency of enzyme ASS1 in the liver, which metabolises protein.

Rishi’s Father Shirish donated a portion of liver to perform the liver transplant. According to Indian law only blood relation can donate their organ. To stop illegal organ transplant, Indian Government has come up with a 1994 law that criminalizes organ sales. The Human Organs Transplant Act, 1994 has laid down certain rules and regulations that are to be followed while conducting organ transplant.

“The child was unable to metabolise proteins ingested in the daily diet. Rishi suffered from mental slowness, recurrent vomiting, poor feeding and chest and intestinal infections. For four years, the child survived on a low protein diet with medicines and imported essential amino acids formulae which cost Rs 30,000 per month,” Dr A S Soin, chief surgeon at the Medanta Liver Institute in Gurgaon said.

“After the transplant, the child is now on a normal diet and mentally sharper than before. For the first time in his life, after transplant, he drank milk and ate a chocolate”, said Dr Neelam Mohan, director, paediatric hepatology.

Doctors said that there is no drug therapy which could be used for this disorder.