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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.
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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