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Carnitine Deficiency - Crossref

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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

The neonatal manifestation of carnitine palmitoyltransferase II deficiency is a rare lethal genetic disorder of fatty acid oxidation. Carnitine transfers long-chain fatty acids across mitochondrial membranes for u03b2-oxidation, where CPT II plays a key role. The deficiency phenotypical forms of CPT II include lethal neonatal, extreme infantile, and myopathic forms. The CPT II deficiency was identified by the plasma acylcarnitine profile and the genetic analysis, which revealed CPT II deficiency. In addition, potential pathogenic variants of the SLC22A5 gene in the SLC22A5 gene suggest primary carnitine deficiency. With CPT II deficiency, major renal, cerebral, and cardiac abnormalities were identified.

Source link: https://doi.org/10.1136/bcr-2022-251321


Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study

Abstract Primary carnitine deficiency that is not treated with L-Carnitine can result in sudden cardiac death. To our knowledge, it is unknown if asymptomatic patients treated with L-Carnitine suffer from myocardial scarring and therefore be at a higher risk of potentially serious arrhythmia. Cardiac's analysis of function and myocardial scarring is non-invasively aided by cardiac magnetic resonance imaging with late gadolinium enrichment, which is non-invasively best supported by cardiac magnetic resonance imaging with late gadolinium enhancement. There were two cases of unexplained myocardial scarring among homozygous PCD patients, but this is in contrast to no myocardial scarring in any of the other study participants.

Source link: https://doi.org/10.1038/s41598-019-50458-9


Comprehensive Metabolomic Analysis of IDH1R132H Clinical Glioma Samples Reveals Suppression of β-oxidation Due to Carnitine Deficiency

In clinical samples of gliomas with IDH1 mutation, the D-2-hydroxyglutarate level was significantly elevated compared to controls of gliomas with no mutation. A decrease in u03b-oxidation in IDH mutant clinical glioma samples relative to those of mutant IDH-expressing cells is the most notable difference in the metabolic profile in the IDH mutant clinical glioma samples compared to those of mutant IDH-expressing cells. These metabolic changes may explain the lower cell division rate observed in IDH mutant gliomas and may provide a more realistic prognosis of IDH mutant gliomas.

Source link: https://doi.org/10.1038/s41598-019-46217-5

* 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