Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia
Abstract Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications. This report presents the case of a 4-month-old Colombian female with MMA, diagnosed...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2025-06-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100601&lng=en&tlng=en |
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