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Carnitine Deficiency - Europe PMC

Summarized by Plex Scholar
Last Updated: 10 January 2023

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Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

Carnitine palmitoyltransferase II deficiency, a rare lethal inherited disease of fatty acid oxidation, is present in neonatal form. For u03b2-oxidation, Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes, where CPT II plays a vital role. The deficiency phenotypical modes of CPT II include lethal neonatal, severe infantile, and myopathic forms. CPT II deficiency was revealed by a plasma acylcarnitine profile and the genetic analysis. In addition, possible pathogenic variants in the SLC22A5 gene point to primary carnitine deficiency. Polycystic kidney disease and cardiomegaly were diagnosed postnatally by antenatal tests.

Source link: https://europepmc.org/article/MED/36535739

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions