Isolated Methylmalonic Acidemia in Pediatric Population: A Case Report
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Abstract
Methylmalonic acidemia is an autosomal recessive heredity disorder resulting from an inborn defect of organic acid metabolism. It can manifest either in the early days of life or can have a late onset in childhood.
The treatment mainly involves protein restriction, carnitine, and vitamin B12 supplementation. Here, we report a case of methylmalonic acidemia that presented with complaints of multiple episodes of vomiting, hypotonia, and lethargy, followed by regression of achieved milestones. Through the laboratory tests, he was diagnosed with methylmalonic acidemia and confirmed with a genetic report. The child is showing improvement with protein restriction and supplements.
The study aims to highlight the significance of early metabolic disease diagnosis and identification as well as the necessity of early treatment and improved results.
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