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1,928 Possible Causes for C10:2-Carnitine Increased

  • Carnitine Deficiency

    METHODS: We used a 2-factor nutrient depletion design to induce isolated and combined biotin and carnitine deficiency in HepG2 cells and then repleted cells with carnitine[ncbi.nlm.nih.gov] Since hyperammonemia recurred with the increase of protein intake, it was necessary to increase the dose of carnitine to 150 mg/kg/day.[ncbi.nlm.nih.gov] RESULTS: Kinetic analysis of carnitine transport in fibroblasts revealed an absence of saturable carnitine transport in the proband's cells and a partially impaired carnitine[ncbi.nlm.nih.gov]

  • Carnitine Transporter Deficiency

    carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect (disorder) renal carnitine transport[wikidata.org] Prognosis for primary carnitine deficiency is excellent for patients who are on carnitine therapy.[symptoma.com] Disorders of carnitine transport and the carnitine cycle.[ncbi.nlm.nih.gov]

  • Myopathic Carnitine Deficiency

    However, in patients with carnitine deficiency muscular carnitine stores are not replenished by increased plasma carnitine. 1 2 7 Therefore, a prolonged decrease in plasma[jnnp.bmj.com] In some patients the muscle carnitine content multiplied by a factor of 3-4, but carnitine concentration reached the normal range in only 2 patients.[ncbi.nlm.nih.gov] Abstract In a reported patient with myopathic carnitine deficiency, addition of exogenous carnitine to muscle homogenates failed to correct palmitate oxidation, and oral carnitine[ncbi.nlm.nih.gov]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma C(4)-carnitine, SCAD enzyme activity in fibroblasts and lymphocytes, DNA[ncbi.nlm.nih.gov] His metabolic work up revealed elevated butyryl carnitine in plasma and ethyl malonic acid in urine.[ncbi.nlm.nih.gov] Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range ( 0.68 µmol/L).[ncbi.nlm.nih.gov]

  • Common Cold

    Vitamin C is also a cofactor in numerous enzymatic reactions involved in the making of collagen, L-carnitine, and several neurotransmitters, and in the regulation of gene[lpi.oregonstate.edu] Dietary ascorbic acid and muscle carnitine (beta-OH-gamma-(trimethylamino) butyric acid) in guinea-pigs. Br. J.[ncbi.nlm.nih.gov] Ascorbate indirectly stimulates fatty acid utilization in primary cultured guinea pig hepatocytes by enhancing carnitine synthesis. J.[ncbi.nlm.nih.gov]

  • Glutaric Aciduria Type 2

    Diagnostic methods Urinary organic acid analysis usually displays various combinations of increased dicarboxylic acids, glutaric acid, ethylmalonic acid, 2-hydroxyglutarate[orpha.net] Blood acylcarnitines show increased C4-C18 species although patients may be severely carnitine depleted, which may limit the degree of these abnormalities.[orpha.net] Differential diagnosis Differential diagnosis includes autosomal resessive polycystic kindney disease; carnitine palmitoyl transferase II deficiency, neonatal form; Zellweger[orpha.net]

  • Medium Chain Acyl CoA Dehydrogenase Deficiency

    Secondary carnitine deficiency has been documented in these patients as well as the excretion in the urine of medium-chain-length acyl carnitine esters, such as octanoylcarnitine[ncbi.nlm.nih.gov] We think that the time course of serum free carnitine may help in knowledge about carnitine depletion in MCAD deficiency.[ncbi.nlm.nih.gov] To avoid this pitfall, attention should be given to serum levels of free carnitine, and carnitine loading may be demanded in hypocarnitinemia.[ncbi.nlm.nih.gov]

  • Glutaric Aciduria

    Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness.[ncbi.nlm.nih.gov] Intrapartum management included intravenous carnitine administration, and the patient underwent cesarean delivery at term without complication.[ncbi.nlm.nih.gov] Diagnostic methods Urinary organic acid analysis usually displays various combinations of increased dicarboxylic acids, glutaric acid, ethylmalonic acid, 2-hydroxyglutarate[orpha.net]

  • Isovaleric Acidemia

    […] or acetyl-L-carnitine in these two patients.[ncbi.nlm.nih.gov] carnitine.[ncbi.nlm.nih.gov] At the end of either treatment, erythrocyte calpain was measured and found to be decreased after carnitine therapy (140 versus 96 U/mg Hb with glycine or carnitine, respectively[ncbi.nlm.nih.gov]

  • Hypoglycemia

    Investigations revealed non-ketotic hypoglycemia suggesting FAOD which was later confirmed as carnitine uptake defect with gas chromatography and mass spectrometry and mutation[ncbi.nlm.nih.gov] We believe that carnitine deficiency was possibly involved in the severe hypoglycemia observed in this case.[ncbi.nlm.nih.gov] Defects in carnitine transport, carnitine acyl transferase, long-, medium-, and short-chain acyl dehydrogenases, and carnitine deficiencies have been identified.[pedclerk.bsd.uchicago.edu]

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