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Tests to determine type in OROTIC, GLUTARIC ACIDURIA.

Resolved question:
Hello. Screen test indicate 1. Orotic aciduria 2. Glutaric aciduria. Doctor is not familiar with aciduria. What test(s) can determine specific type of aciduria and cause?

Submitted: 4 Days
Category: Family Physician-GP

Expert:  Dr. Jaydeep Tripathy replied 4 Days.

Hello,
Thank you for your query at DoctorSpring.com
Orotic aciduria as well as Glutaric Aciduria, can both be detected by the urinary screening tests for both. Orotic aciduria is more common, and is an enzyme deficient metabolic disorder. It can be associated with some types of megaloblastic anemia.
If orotic acid is found in the screening test, it indicates a defect in the pyrimidine breakdown, thereby hampering the activity of the body cells. It can present with mental retardation as well as growth retardation.
Hope this was helpful,
Regards.

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Patient replied :

Re - Organic Acids Test, Aciduria Dr., Thank you for the reply. If Megaloblastic Anemia is not present, which I do not know although mean corpuscular hemoglobin / volume is always high, this rules out aciduria, is that correct? Thank you, Jason Woods


Expert:  Dr. Jaydeep Tripathy replied 3 Days.

If MCV and MCHC are high, it could indicate megaloblastic anemia.
A peripheral smear is very important in your case.
But if there is no megaloblastic anemia, you should not worry.
Regards.

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Patient replied :


Dr., Thank you for reply. Orotic Aciduria and Glutaric Aciduria are on the GCDH and UMPS genes. However, a chromosomal microarray test shows abnormality, chromosome 17. The GCDH and UMPS gene are not on chromosome 17. They are on chromosome 3 and 19. This is causing some confusion. The question is: are there abnormality of gene that do not appear on the chromosomal microarray test? A file is attached. It is a chromosomal microarray test report. Also Organic Acids Screen. Thank you, J Woods




Expert:  Dr. Jaydeep Tripathy replied 2 Days.

No, all the abnormalities of chromosomes like addition, deletion, duplication, e.t.c will show up on chromosomal microarray.
Kindly discuss this with a gene therapy specialist as other internal medicine specialists like us are not the best suited for this.
This is a rare presentation, however, if you do not have symptoms, you should not worry.

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