Advice and recommendation for my son's IRON PROFILE.

Hello,
Thank you for your query at DoctorSpring.com
I have gone through the results. Before any interpretation can be made, I would like to clarify a few things:
1. What clinical condition does your child have? What are his problems?
2. What are the symptoms, signs, etc? What prompted the physician (Dr. Negia Saheer) to order the above test?
3. What are his growth parameters? What is his height and weight?
4. How is his school performance? Does he partcipate in sports?
Lastly, how much did the above test cost you?
Regards
Dr. Saptharishi L G

Dr. Saptharishi L G
DM (Pediatric Critical Care) Senior Resident

The child does not any clinical symptoms The child is residing near leather factory So the ion profile was ordered It cost around 200 dollars. .
His academic performance was very below and his iq is 85 He participate in tennis
His ht is 142 wt is 30
My family  doctor saw the report and told me my son has Urea cycle defect
Please advise

Dear Parent,
A test has a meaning only if it is done in the right clinical context. That is.. Only if the pre-test probability of the test is reasonably high, a test would be useful in either confirming or disproving a diagnosis. Before testing, if you have a clinical suspicion of a particular disease and test for the same, the results that you get are likely to reflect something. If we test for every available chemical in the body, one or two chemicals are likely to be found out of range. That can be a pure co-incidence.
Your child has bee asymptomatic except for average school performance. His IQ is not that of a genius (>140), but well within the normal range. Only an IQ of less than 70 is considered low. His growth parameters are normal. His height and weight are absolutely within the normal range. There was absolutely no reason to get this test. As per my personal opinion, we could have avoided this test. I am not sure if it is worth 12000 INR. When did residing near a leather factory become an indication for such a test? I am not convinced about the need for it.
As far as the interpretation is considered, some of the parameters are elevated, for sure, but they may be just a coincidence. Kindly get a fasting serum ammonia level. All urea cycle defects would have hyperammonemia (elevated ammonia in blood). We always screen for serum ammonia levels as the first step.
Does your child have episodes of encephalopathy/ coma requiring hospitalilzations?
Does your child have poor growth? Does your child have worsening of symptoms on ingestion of proteinaceous diet? Does he have severe mental retardation, abnormal hair texture or skin odor?
If not, your child does not seem to have any classical features of hyperammonemia. The field of medicine is based on history and clinical examination. If we start getting such expensive, irrational tests done for staying near a leather factory, we would drain our parents of money and resources. Moreover unnecessary tests mean positivity by chance and further testing. I hope you get my point.
Now that the results are showing some abnormal levels, let us go ahead and get serum ammonia levels. If they are within the normal range, no further action would be required. Kindly get back to me with the results of serum ammonia.
Regards.

HELLO SIR
I HAVE AMMONIA TEST PLEASE LET ME KNOW YOUR OPINION
IT SEEMS TO BE 108 UMOL/L

Dear parent,
Thank you for getting the serum ammonia test. It has definitely clarified a lot of things.
Firstly, there seems to be a problem as the ammonia levels are more than the acceptable upper limit for age. That is definitely of concern.
Diagnosis of any inborn error of metabolism and organic acidemias or urea cycle disorder requires an algorithmic approach.
1: arterial blood gas with pH and bicarbonate
2: serum ammonia levels
3: plasma lactate levels
4: blood glucose and ketone levels
5: Looking for specific skin, hair findings or odour.
6. TMS/GCMS which has been already done in our child
So kindly visit a Pediatric geneticist in person for further guidance. Only a good history and clinical examination can clarify all the issues here. And we need to get the above tests done as there definitely appears to be an underlying problem.

IS THAT ANYTHING EMERGENCY , I DONT KNOW WHAT TO DO , MY FAMILY DOCTOR TOLD
IT WILL LEAD TO COMA

PLS ADVICE AND HELP

Dear parent,
There is no need to panic. If it is indeed a urea cycle disorder, by following a set of guidelines and oral medications, your child would be able to lead a relatively normal life. But, there is a risk of coma with starvation, dehydration and severe metabolic stresses.
As such to give any further advice based on the available information is unlikely to be scientifically sound. It is not a dire emergency, but I would advise you to meet a paediatrician within the next seven days.
Regards
Dr. Saptharishi