Excess Ammonia in Blood - Pediatric Oncall

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

Childhood Ailments

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Question
SUMMARY "We have a 9 months old baby girl, she have a problem for Excess Ammonia in blood. This is diagnose at when she have age only 4 days after the 1 1/2 month we have started a special milk product which have protein free to over come the Ammonia level, after some time it is diagnose that she have a UREA CYCLE DEFECT. And now till today we are giving low protein food or very low protein. Q 1: Is this defect is common, what is the ratio? Q 2: Is this defect are removable? If yes then how long and what is the standard medical treatment? Q 3: Is any medicine are available for removing this defect and for maintaining good level of Ammonia considering that we will give good protein food to this baby? Q 4: What is the future of this baby I mean she is only 9 months old and she has a very big up coming life?
Answer
Urea cycle defects is the term given for a group of disorders in which the main problem is the rise in the ammonia level in the blood. These defects are genetically inherited. This is due to deficiency of a particular enzyme that helps in digestion of the protein. Depending upon the enzyme involved and the severity of ammonia increase in the blood, the prognosis varies. The treatment consists of a low protein diet and medications to bring the ammonia level down such as sodium benzoate, phenylacetate and arginine. These medications may have to be taken life long. Carnitine supplements are also required in these patients. Back to All Questions

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