Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns [PDF]
In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (
Loek L. Crefcoeur +4 more
doaj +7 more sources
Possible correlation between increased serum free carnitine levels and increased skeletal muscle mass following HCV eradication by direct acting antivirals [PDF]
We aimed to evaluate factors associated with changes in skeletal muscle mass in hepatitis C virus (HCV)-infected patients after treatment with direct-acting antivirals (DAAs). Consecutive HCV-infected patients after treatment with DAA were recruited into
Yoshimasa Tokuchi +20 more
doaj +4 more sources
Enzymological determination of free carnitine concentrations in rat tissues
Purified carnitine acetyltransferase was employed to catalyze the reaction:Carnitine+acetylCoA⇌acetylcarnitine+CoA. In the presence of a known excess of acetyl CoA, free CoA released was determined simultaneously in a coupled spectrophotometric assay ...
Norman R. Marquis, Irving B. Fritz
doaj +4 more sources
Screening of free carnitine and acyl-carnitine status in patients with Familial Mediterranean Fever [PDF]
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring self-limited fever, abdominal pain and chest pain caused by serositis. FMF mainly affects Middle-East populations with a high prevalence in Sephardic Jews, Turkish, Arabs and Armenians.
Kiykim E +6 more
europepmc +4 more sources
Evaluation of Serum Carnitine Levels for Pediatric Patients Receiving Carnitine-Free and Carnitine-Supplemented Parenteral Nutrition [PDF]
Purpose Carnitine is a carrier molecule transporting long-chain fatty acids (LCFAs) into the mitochondria for fatty acid β-oxidation. The purpose of this study is to evaluate the role of carnitine supplementation in parenteral nutrition (PN) within the pediatric population.
Brian Winther +3 more
openalex +4 more sources
Free carnitine urinary excretion during childhood [PDF]
Free carnitine excretion in urine was measured in 86 healthy children aged 1 day to 10 years in order to establish a pattern during development.In 30 of these cases the data were subdivided into day/ night period.Nine children were also followed over 3 consecutive days.The radiochemical method of Cederblad and Lindstedt was used for free carnitine ...
F Donzelli +5 more
openalex +2 more sources
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease [PDF]
Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids ...
Raphael Machado CASTILHOS +15 more
doaj +3 more sources
Determination of plasma free carnitine by electrospray tandem mass spectrometry [PDF]
We have evaluated a tandem mass spectrometry method for determining free carnitine concentrations in plasma and have compared its performance with that of an existing radioenzymatic assay. In this method, plasma was mixed with an internal standard, carnitine-d3 (600 nmol/L), and butylated before analysis on a Quattro II tandem mass spectrometer.
David T Hardy +2 more
openalex +3 more sources
Immunoreactive Trypsinogen and Free Carnitine Changes on Newborn Screening after Birth in Patients Who Develop Type 1 Diabetes. [PDF]
Estrella JFGL, Wiley VC, Simmons D.
europepmc +3 more sources
Structural basis of sodium ion-dependent carnitine transport by OCTN2 [PDF]
Carnitine is essential for the import of long-chain fatty acids into mitochondria, where they are used for energy production. The carnitine transporter OCTN2 (novel organic cation transporter 2, SLC22A5) mediates carnitine uptake across the plasma ...
James S. Davies +5 more
doaj +2 more sources

