Abstract
This is a single-center, retrospective analysis of children confirmed to have an inborn error of metabolism in the pediatric department of a teaching hospital in central India. Patients were categorized as acute encephalopathy, developmental delay/seizures, and neuroregression or organomegaly depending on their predominant phenotype. Of the 50 patients analyzed, the commonest group was lysosomal storage disorders in 13 (26%), followed by organic acidurias - 8 (16%), mitochondrial disorders - 5 (10%), urea cycle disorders, carbohydrate metabolism disorders, and amino acidopathies - 4 (8%) each, fatty acid oxidation defects and neurotransmitter deficiency disorders - 3 (6%) each, and miscellaneous (8%). Genetic variations were identified in 25 (50%). Acylcarnitine profiles and urine organic acids were diagnostic in 62.5% of children presenting as acute encephalopathy, exome sequencing in 55.5% of children with neuroregression, and specific enzyme assay in 83.3% of children with predominant organomegaly (83.3%). Children with developmental delay/seizures needed a wider range of tests.
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References
van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab. 2012;105:368–81.
Bijarnia-Mahay S, Verma IC. Inborn errors of metabolism in India- where we are at! Indian J Pediatr. 2019;86:875–6.
Kapoor S, Thelma BK. Status of newborn screening and inborn errors of metabolism in India. Indian J Pediatr. 2018;85:1110–7.
Ganesh R, Abinesh R, Janakiraman L. Clinical spectrum of inherited disorders of etabolism. Indian J Pediatr. 2019;86:892–6.
Nagaraja D, Mamatha SN, De T, Christopher R. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population. Clin Biochem. 2010;43:581–8.
Lodh M, Kerketta A. Inborn errors of metabolism in a tertiary care hospital of eastern India. Indian Pediatr. 2013;50:1155–6.
Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr. 2012;49:799–804.
Sheth J, Mistri M, Bhavsar R, et al. Lysosomal storage disorders in Indian children with neuroregression attending a genetic center. Indian Pediatr. 2015;52:1029–33.
Sindgikar SP, Shenoy KD, Kamath N, Shenoy R. Audit of organic acidurias from a single centre: clinical and metabolic profile at presentation with long term outcome. J Clin Diagn Res. 2017;11:SC11–4.
Navarrete R, Leal F, Vega AI, et al. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. Eur J Hum Genet. 2019;27:556–62.
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The authors thank the patients and residents of the Department of Pediatrics, Choithram Hospital & Research Center, Indore.
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GRP contributed to the planning, data collection, analysis and writing of the manuscript; AW contributed to data collection; SPJ contributed to data collection and critical appraisal. GRP will act as the guarantor for this paper.
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Passi, G.R., Wakchaure, A. & Jaiswal, S.P. Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India. Indian J Pediatr 89, 184–191 (2022). https://doi.org/10.1007/s12098-021-03958-4
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DOI: https://doi.org/10.1007/s12098-021-03958-4