Abstract

An uncommon autosomal recessive organic acid disease is malonic aciduria. This disease may be easily identified and included in the NBS programmes by means of the widespread use of tandem mass spectrometry’s in the study of the amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported the first screened and diagnosed with malonic aciduria by newborn screening (NBS) in early neonatal period. The patient possesses a malonyl-CoA decarboxylase genetic variation not previously described. This disease should be distinguished from a related malonic and methylmalonic aciduria problem. Malonic aciduria's clinical phenomenology varies and pathogenesis is not completely known. The proper treatment regimen, nutritional therapy or frequent follow-up to these individuals are not guided or recommended. The majority of current treatment data is based on a single research or case report.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.