New-born screening of metabolites with liquid chromatography-mass spectrometry and gas chromatography–mass spectrometry: a metabolic and molecular signatures methyl malonic aciduria with combined oxidative phosphorylation deficiency-10: a rare case report

نویسندگان

چکیده

An uncommon autosomal recessive organic acid disease is malonic aciduria. This may be easily identified and included in the NBS programmes by means of widespread use tandem mass spectrometry’s study amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported first screened diagnosed with aciduria screening (NBS) early neonatal period. The patient possesses a malonyl-CoA decarboxylase genetic variation not previously described. should distinguished from related methylmalonic problem. Malonic aciduria's clinical phenomenology varies pathogenesis completely known. proper treatment regimen, nutritional therapy or frequent follow-up to these individuals are guided recommended. majority current data based on single research case report.

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ژورنال

عنوان ژورنال: International Journal of Contemporary Pediatrics

سال: 2023

ISSN: ['2349-3283', '2349-3291']

DOI: https://doi.org/10.18203/2349-3291.ijcp20231854