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Clinical, biochemical and molecular characterization of newborns with fatty acid β-oxidation disorders: new variants in the<i>ACADM</i>,<i>ACADVL</i>and<i>SLC22A5</i>genes

2025-03-20

Abstract excerpt

<h4>Purpose</h4> In this study, we aimed to describe clinical, laboratory and molecular features of newborns with clinical suspicion for CTD, MCADD and VLCADD. Fatty acid β-oxidation disorders (FAODs) are a heterogenous group of inherited metabolic defects in which the main common features are fasting or stress-induce hypoketotic hypoglycemia, lactic acidemia or hyperammonemia. The implementation of newborn screen...

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Literature Corpus work
7c1bb717-813c-5877-945b-fa13f6ff1dfa
DOI
10.1101/2025.03.19.25324093
Open publication

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Clinical, biochemical and molecular characterization of newborns with fatty acid β-oxidation disorders: new variants in the<i>ACADM</i>,<i>ACADVL</i>and<i>SLC22A5</i>genesDOI 10.1101/2025.03.19.25324093
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