Brief Answer:
Urea cycle defect present. Treatment with protein restriction, dialysis.

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have carefully gone through the report attached. Your child seems to have an inborn error of metabolism. The problem lies in a process called urea cycle and the disease is called urea cycle defect. It is the process by which nitrogenous wastes of the body are excreted by the liver. A defect in this cycle increases the concentrations of the byproducts citrulline and aspartate. It also causes the concentration of branched chain amino acids to increase. The faulty nitrogen excretion causes blood urea nitrogen to increase. If this level increases above a certain level of toxicity, the child may go into coma.

The first step of treatment is to reduce the dietary protein intake and to give supplementation of essential ketogenic amino acids that are required for protein synthesis in the body. In case the nitrogen load increases, dialysis may need to be done. Alternative nitrogen excretions with intravenous sodium benzoate and sodium phenyl acetate are done and your child seems to be undergoing this process already as the report shows the concentration of these substances to be high.

The potassium and magnesium levels are low and these need to be supplemented. This is perhaps separate from the above.

I understand the dismal situation. Depending upon the present situation, dialysis and alternative methods of nitrogen excretion are all that can be done.

If you found my answer to be helpful, please leave a 5 star rating and a positive review for the answer.

Regards
Dr. Diptanshu Das

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Brief Answer:
You have already got the confirmatory test done

Detailed Answer:
Thanks for writing back.

The very blood test that has been done (the report of which you have attached) is the confirmatory test and no other test needs to be done.

About tests other than blood tests, liver biopsy may be required to confirm the diagnosis.

Reading the following may help:
http://www.rarediseasesnetwork.org/ucdc/physicians/
http://www.szmc.org.il/Departments/PediatricGastroenterology/PediatricHepatologyClinic/LiverConditions/UreaCycleDisorderUCD/tabid/2382/Default.aspx

Regards
Dr. Diptanshu

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Brief Answer:
Serum ammonia and blood urea nitrogen not confirmatory

Detailed Answer:
Serum ammonia and blood urea nitrogen are supposed to be raised. But the test is not confirmatory as it could happen in a number of other conditions as well.

Regards
Dr. Diptanshu Das

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Brief Answer:
You need not worry if there are no symptoms / no gross derangement in blood

Detailed Answer:
Thanks for writing back. Sorry for not being able to answer back earlier.

In case your child is asymptomatic and has normal investigative findings as well, you need not get anxious. As of now or even henceforth, if kidney and liver function as well as the BUN is normal while the child is clinically sound, there is no reason to worry. Just remain in periodic follow up with your pediatrician. From time to time you will also need to get the plasma citrulline level measured.

I would like to ask you why for the first time was the metabolic profile checked? Was it a routine check up or was it due to some specific complaints? If there were any problems, please mention them so that I would be better able to judge.

Regards
Dr. Diptanshu Das

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Brief Answer:
Get him evaluated by a nephrologist whether he needs dialysis

Detailed Answer:
Thanks for writing back.

About your son, ammonia levels were expected to be high and that is exactly the case. Please get in touch with a nephrologist to evaluate whether he needs dialysis, and if so, at what frequency. As mentioned earlier, the body has already employed alternative nitrogen removal mechanisms which I initially attributed to external measures.

About your daughter, she seems to have some sort of aminoaciduria. But the case is more complex and not very clear to me. She would need a more specialized consultation in this regard.

You did not answer my previous question on why exactly was the metabolic screening done for your son.

Regards
Dr. Diptanshu Das

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Brief Answer:
I do not think that the supplements would have an effect

Detailed Answer:
Thanks for writing back.

Unfortunately there is discordance between your statements. In one you mention ammonia to be high (103) and in another you say it is normal (18). I think that rather than presuming things and ordering tests on your own, you should remain under follow up of a pediatrician who can judge which test to order and when. From my side, I have access to only as much information as you provide and no further. I cannot examine and assess your child. So, I am partially in dark. CMC Vellore is a very good institute and I suggest that you keep your children in their follow up. Take the test reports to them and they would be able to guide you further.

I do not think that the supplements have anything to do with the test results. I have gone through the attached images. Taking non-veg food could have an effect but that should not be significant.

I would not like to comment on the ABG report as it needs clinical correlation.

Regards
Dr. Diptashu Das

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