Q: My baby was born prematurely (33 weeks of mothers pregnancy) due to high Blood pressure. The baby was weighing just 1.43 kilograms and moved to NICU at Manipal hospital, Bangalore for management. For first 3 days there was no problem just it had jaundice which they cured by Phototherapy. The fourth and fifth day the baby suffered seizures five times and took ventilator support for breathing. They have given medicines to control & to avoid seizures further. The baby was not that much active due to high doses of medicines. The doctor who is looking after my baby told that the ammonia content in the body has shot upto 10 times and advised us to go for testing the urine and blood. All these days the baby was fed with glucose. The report which I got after 3 days has indicated tyrosine level is on the higher side of normal (1.98 mg/dl) and they do not suspected any in-born error of metabolism. But the doctor is saying that he is confident that baby is having tyrosinaemia as he told that the baby was fed with only glucose which does not have that much protein. The real increase of tyrosine may take place when baby is fed with mothers milk. The baby was breathing with the oxygen support for few days and now it is breathing on its own. Duty doctors are checking the ammonia level once in two days. The baby is being fed with mothers milk only now and glucose has been stopped. The doctor is saying us to check again the blood at laboratory for tyrosine level just to make us to confirm the tyrosinaemia. But he is sure of it. Also in our country (India), as told by the doctor, the labs can not able to tell us what type of tyrosinaemia my baby is having but only confirms tyrosinaemia disease. They are prescribing sodium benzoate sachets to my baby and doctor says baby is showing some overall improvement. Based on his words, I am just pushing the treatment at NICU. The cost per day at NICU is also very high. Now I would like to have following clarifications. 1) If the baby is known to have tyrosinaemia, without knowing the type (as our country doesn't have such labs to distinguish), how the doctor can prescribe and cure the disease. 2) Is there any possibility that someone can help in identifying the type of tyrosinaemia if send the blood and urine sample of the baby. 3) As I found from the website (www.emedicine.com) one of the treatment is NTBC (use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) which is tyrosine inhibitor. This drug also unfortunately is not available in India as per the doctor. Is there any possibility to help me in providing this drug for the treatment of this baby. I hope you will help me in understanding this disease better, increasing my morale and rendering any possible help.

A:Your babys preliminary testing shows hyper-ammonaemia with suspicion of tyrosinaemia which is an inborn error of metabolism. The treatment for high ammonia is fine. But we need to confirm the diagnosis of tyrosinaemia and if medicine can be procured to help this. For this you need to consult a good Geneticist.