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Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies

2025-11-11

Abstract excerpt

Inborn errors of amino acid metabolism (IEAAMs) are a heterogeneous group of genetic disorders caused by defects in enzymes, cofactors, or transporters of amino acid catabolism, biosynthesis, or transport. These defects result in toxic metabolite accumulation and/or deficiency of essential metabolites. This review aims to provide an updated overview of diagnosis, clinical implications, management, and evolving the...

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Literature Corpus work
0240fbe4-261e-58d8-ae02-0cf2ad3f38f7
DOI
10.20944/preprints202511.0765.v1
Open publication

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