Helped Over 500,000 patients with 98%+ satisfaction.

Connect & Get Personalized 1-to-1 Answers from Expert Doctors

DoctorSpring > Question Home

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?

Category: Family Physician-GP

Ask Your Own Question

Dr. Jaydeep Tripathy
Category: HIV- AIDS Specialist
View Profile
 26 Doctors Online

Expert:  Dr. Jaydeep Tripathy
View Profile

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.


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
View Profile

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.


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
View Profile

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.

Dr. Jaydeep Tripathy
Category: HIV- AIDS Specialist
Experience: 
MBBS from Sri Ramachandra University in December 2011
M.Med (Family Medicine) - TNMGR University, Chennai
MBA-MPH in Public Health in March 2016, SRM University
Finished AFIH in March 2016, SRM University
MRCP ( UK ), Internal Medicine, Royal College of Physicians, June 2016
Fellowship in Diabetology from Martin Luther University in January 2017

Currently Resident Physician, in MD Radiodiagnosis - Kamakshi Memorial Hospital, Chennai
Dr. Jaydeep Tripathy and 4 other Medical Specialists are ready to help you

Users who read this, also read:

Make informed and better medical decisions.

Get me answers from Doctors now
26 Online Doctor

Join the 500,000 people who found a smarter, quicker way to get Answers, Recommendations & Expert Opinions.

Expert Doctors at fingertips

Recommendation on next step. Second-opinion.Multi-specialty.

Save Time

Average time for answers: 6 hours.

Save Money

$35 for typical specialist consult vs. $120 for a local appointment.

Free Follow-ups

Clarify, ask further questions for free in private conversation.

100% Satisfaction

Money back guarantee for the 1st reply. MEDNET Quality Board.

Start My Consultation

CHAT NOW

About DoctorSpring.com

Doctor Spring is a novel online Doctor consultation platform where you can get your medical questions answered by leading Doctors. Just Submit your question and rest assured that you will consult a Doctor easily. Once you submit the question, the Doctor from the concerned specialty will reply within hours. You can always ask more questions or add details with follow-up question options and make it an online doctor chat. You may use this service to consult a specialty or for getting medical second opinion. All paid services come with a MEDNET quality assurance and 100% money back guarantee.

DoctorSpring in news