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September 30, 2025Clinical Genetics

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β‐Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes

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Authors

IMIrene Hidalgo MayoralHospital Universitario La Paz ACA. CeciliaKarlsruhe Institute of Technology CRCarmen Rodríguez‐JiménezHospital Universitario La Paz

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Implication

Clinical assessment finds novel mutations in ACADM and SLC22A5 genes in newborns with fatty acid β-oxidation disorders, indicating improved genetic characterization.

Key Points

Genetic screening identified 17 novel variants in genes related to fatty acid β-oxidation disorders.
Among 94 newborns assessed, 16 confirmed cases representing 17% were true positives for carnitine deficiency.
Clinical and biochemical evaluations over the years reveal the significance of early detection and intervention.
Findings underscore the importance of genetic data in managing fatty acid β-oxidation disorders.

Cite This Study

Mayoral et al. (2025) studied this question.

synapsesocial.com/papers/68dc27558a7d58c25ebb37ac https://doi.org/10.1111/cge.70083

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Implication

Clinical assessment finds novel mutations in ACADM and SLC22A5 genes in newborns with fatty acid β-oxidation disorders, indicating improved genetic characterization.

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β‐Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes

Discussion

Member takes

Implication

Key Points

Cite This Study

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β‐Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes

Discussion

Member takes

Implication

Key Points

Cite This Study

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