Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency [PDF]
Genetics in Medicine, 1998 Primary carnitine deficiency is an autosomal recessive disorder caused by defective carnitine transport and manifests as nonketotic hypoglycemia or skeletal or heart myopathy.To define the mechanisms producing partially reduced plasma carnitine levels in the parents of affected patients, we examined carnitine transport in vivo and in the fibroblasts of
F, Scaglia +6 more
openaire +2 more sources
PPARα contributes to protection against metabolic and inflammatory derangements associated with acute kidney injury in experimental sepsis [PDF]
, 2019 Sepsis‐associated acute kidney injury (AKI) is a significant problem in critically ill children and adults resulting in increased morbidity and mortality. Fundamental mechanisms contributing to sepsis‐associated AKI are poorly understood.
Bennion, Brock G +10 more
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Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]
, 2017 Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio +6 more
core +1 more source
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. [PDF]
, 2014 BACKGROUND: Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis.
Akrami, S.M. +4 more
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Molecular Autism, 2023 Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD).
Edgars Liepinsh +6 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens +9 more
doaj +1 more source
Metabolic lipid muscle disorders: biomarkers and treatment
Therapeutic Advances in Neurological Disorders, 2019 Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed.
Corrado Angelini +3 more
doaj +1 more source
Caveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2): effect of protein kinase C on this interaction in rat astrocytes. [PDF]
PLoS ONE, 2013 OCTN2--the Organic Cation Transporter Novel family member 2 (SLC22A5) is known to be a xenobiotic/drug transporter. It transports as well carnitine--a compound necessary for oxidation of fatty acids and mutations of its gene cause primary carnitine ...
Magdalena Czeredys +5 more
doaj +1 more source
Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]
, 2013 Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core +1 more source
Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]
, 2017 Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio +4 more
core +1 more source