Inherited metabolic disorders (IMDs) are monogenic disorders with overlapping symptoms limiting diagnosis to altered biochemical profile. Technical expertise is required to detect IMDs. Scarce laboratories in India warrant need of a competent centre with a national network. In view of this, we set up a laboratory wherein training and competence was acquired from reputed centres. The gold standard methods such as amino acid analysis system, GCMS and enzyme assays were standardized and validated. Around 560 lysosomal enzyme assay and 2123 metabolite analysis (amino acids and organic acid) samples from across the country were analyzed in the last two years. Lysosomal enzyme deficiency was obtained in 25% of samples while 14% of them exhibited an abnormal amino acidogram/ organic acidogram, thus, confirming the diagnosis of several metabolic disorders. Early and accurate diagnosis of LSDs has benefited many of our patients to opt for ERT, prenatal diagnosis and pre symptomatic screening in the family. Early diagnosis and subsequent diet management of methylmalonic acidemia, glutaric aciduria type I and others has helped to arrest irreversible damage which would have, or else, occurred due to accumulation of toxic metabolites. Thus, it is noted that having a specialized laboratory within the country has facilitated affordable diagnosis and subsequent management of metabolic disorders which were left undiagnosed till recent pass due to want of facilities.

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