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Hello I Am Wondering What Genetic Diseases You Would See

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Posted on Sat, 16 Nov 2019
Question: Hello
I am wondering what genetic diseases you would see an elevated Taurine and elevated d-dimer?
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Follow up: Dr. Diptanshu Das (0 minute later)
Hello
I am wondering what genetic diseases you would see an elevated Taurine and elevated d-dimer?
doctor
Answered by Dr. Diptanshu Das (5 hours later)
Brief Answer:
Further evaluation needed

Detailed Answer:
Thanks for using the Ask a Doctor service.

I have gone through your query and have checked the attached report. Taurine is an amino acid that is produced during metabolism. Elevated taurine levels could be due to a problem in the metabolic pathway so as to the conversion of taurine to its metabolite does not occur. The correlation of d-dimer needs to be evaluated. Prior to thorough evaluation, a clinical exome or more preferrably, whole genome sequencing should be sent for. It is only after that we can comment what exactly in happened to your child.

Feel free to write back.

Regards
Above answer was peer-reviewed by : Dr. Prasad
doctor
doctor
Answered by Dr. Diptanshu Das (0 minute later)
Brief Answer:
Further evaluation needed

Detailed Answer:
Thanks for using the Ask a Doctor service.

I have gone through your query and have checked the attached report. Taurine is an amino acid that is produced during metabolism. Elevated taurine levels could be due to a problem in the metabolic pathway so as to the conversion of taurine to its metabolite does not occur. The correlation of d-dimer needs to be evaluated. Prior to thorough evaluation, a clinical exome or more preferrably, whole genome sequencing should be sent for. It is only after that we can comment what exactly in happened to your child.

Feel free to write back.

Regards
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Prasad
doctor
Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3878 Questions

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Hello I Am Wondering What Genetic Diseases You Would See

Hello I am wondering what genetic diseases you would see an elevated Taurine and elevated d-dimer?