alexa Abstract | Screening for aminoacidurias and organic acidurias in patients with metabolic or neurological manifestations

Biomedical Research
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)


Inborn errors of metabolism (IEM) are a group of inherited disorders occurring due to a single gene defect, resulting in accumulation of an abnormal metabolite leading to varied manifestations and complications. Early recognition and treatment are the best determinants of outcome in such patients. Objective: With the objective of providing a guide towards early diagnosis of IEM among patients having strong clinical suspicion, we have screened 128 urine samples from patients with either metabolic or neurological features. Method: Urine samples were analysed for abnormal constituents like reducing sugar, proteins, ketone bodies by routine laboratory chemical tests. Special tests were done for phenylketones, organic acids, ketoacids, tyrosine, mucopolysachharides supported by thin layer chromatography for aminoacidurias. Results: Most common positive tests reported in our study are, non specific generalized aminoacidurias (58%), branched chain aminoacidurias (14%), tyrosinuria (13%), methlymalonic aciduria (7%) followed by mucopolysaccharidosis (4%) and phenylketonuria (2%). The common clinical manifestations observed among all participants were neurological features like convulsions (25.7%), delayed milestones (17.9%), and followed by metabolic acidosis (17.2%) and hypoglycemia (10.1%). Conclusion: High index of suspicion from clinicians supported by preliminary screening tests can aid in early presumptive diagnosis, which helps in initiating early treatment to prevent lethal neurological complications.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Vidya S Patil Rama Jailkhani Dhiraj J Trivedi ShreerangP Kulkarni Aparna A Sagare Rakesh Mudaraddi Anil Bargale


Aminoacidurias, Organic acidurias, TLC for aminoacids, Urine screening for IEM

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version