Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branchedchain ï¡-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAA) in plasma, ï¡-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The classic presentation occurs in the neonatal period with developmental delay,failure to thrive, feeding difficulties, and maple syrup odour in the cerumen and urine, which can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Most important challenge is to diagnose a disease condition which presents with wide range of clinical symptoms or may be in cases being subclinical without any manifestations. Even though biochemical tests give us precise report to diagnose MSUD, mutation studies by sequencing genome helps in early detection of disease or carrier status thus, helps in proper management. As age advances, switching over to newer modality of investigations is necessary, like sequencing the exomes carry more weightage than sequencing whole genome, which is cumbersome and time consuming. Here, we are discussing the cases which were diagnosed using Next generation sequencing (NGS).
Case Report
P. 51-53
