Acylcarnitines, metabolic screening, newborn, perinatal asphyxia, therapeutic hypothermiaOptimal prognostic markers evaluating early neuroprotective interventions in neonatal hypoxic-ischemic encephalopathy (HIE) are lacking. This study was designed to assess the prognostic value of acylcarnitines in neonatal ...
Additionally, carnitine binds acyl residues and aids in their excretion. This mechanism is also important in the removal of organic acids that accumulate in some organic acidemias. For this reason, a plasma acylcarnitine profile can aid in the diagnosis of organic acidemas in addition to fatty ...
Vianey-Saban C, Boyer S, Levrat V, Cheillan D, Piraud M, Guffon N, Maire I (2004) Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1-OH) using butyl esters. J Inherit Metab Dis 27(Suppl 1):94 Google Scholar Young...
www.nature.com/scientificreports OPEN Altered serum acylcarnitine profile is associated with the status of nonalcoholic fatty liver disease Received: 7 May 2019 Accepted: 12 July 2019 Published: xx xx xxxx (NAFLD) and NAFLD-related hepatocellular carcinoma Kenichiro Enooku1, Hayato Nakagawa1, ...
the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of ...
The chromatographic profile of AC in preterm newborn has never been investigated to date. The aim of our study was thus to assess AC profiles in neo- nates born at term and with different degrees of immatu- rity with a view to shedding light on metabolism in preterm infants. For the ...
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS Objectives: The effect of administration of the antiepileptic drug valproate (VPA), on the composition of the plasma acylcarnitine profile (including free ... MFB Silva,J Selhorst,H Overmars,... - 《...
the blood. Blood acylcarnitine profile shows marked increase in C16, C18, and C18:1 carnitine species, identical to findings seen in CPTII deficiency.Geneticor enzymatic testing is needed to differentiate the two disorders[92]. NBS bytandem mass spectrometrywill identify CACT deficiency in...
Long-chain acylcarnitines (LCACs) are widely used as diagnostic markers in several metabolic disorders; however, research into the potential effects of excessive accumulation of LCACs or the roles of acylcarnitines as physiological modulators of cell met
The diagnosis was confirmed by in vitro fatty acid oxidation screening assays and enzyme assay in cultured skin fibroblasts. Retrospective study of the newborn whole blood sample of the index case showed a similar profile (free carnitine 181 micromol/L). The newborn population distribution of ...