New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorde...

Cijeli opis

Bibliografski detalji
Glavni autori: Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Format: Članak
Jezik:English
Izdano: MDPI AG 2023-08-01
Serija:International Journal of Neonatal Screening
Teme:
biochemical marker
inherited metabolic diseases
acylcarnitines
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
<i>HADHA</i>
Online pristup:https://www.mdpi.com/2409-515X/9/3/48

Internet

https://www.mdpi.com/2409-515X/9/3/48

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