A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.04.008
Abstract: Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6… read more here.
Keywords: carnitine palmitoyltransferase; deficiency; acylcarnitine; case ... See more keywords
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0286-0
Abstract: Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes. We present a 16-year-old girl with a history of exercise intolerance since childhood. Acylcarnitine species suggestive of multiple acyl-CoA… read more here.
Keywords: co2; acylcarnitine; deficiency caused; complex deficiency ... See more keywords
In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043946
Abstract: The Carnitine-Acylcarnitine Carrier is a member of the mitochondrial Solute Carrier Family 25 (SLC25), known as SLC25A20, involved in the electroneutral exchange of acylcarnitine and carnitine across the inner mitochondrial membrane. It acts as a… read more here.
Keywords: recognition; carnitine acylcarnitine; slc25a20; acylcarnitine ... See more keywords
Neonatal Hypoxic-Ischemic Brain Injury Alters Brain Acylcarnitine Levels in a Mouse Model
Sign Up to like & getrecommendations! Published in 2022 at "Metabolites"
DOI: 10.3390/metabo12050467
Abstract: Hypoxic-ischemic brain injury (HIBI) leads to depletion of ATP, mitochondrial dysfunction, and enhanced oxidant formation. Measurement of acylcarnitines may provide insight into mitochondrial dysfunction. Plasma acylcarnitine levels are altered in neonates after an HIBI, but… read more here.
Keywords: hypoxic ischemic; acylcarnitine levels; brain; ischemic brain ... See more keywords