Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
نویسندگان
چکیده
منابع مشابه
Primary Carnitine Deficiency and Cardiomyopathy
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial β-oxidation resulting from defective carnitine...
متن کاملResidual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
BACKGROUND The prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G genotype in the Faroe Islands. We report and characterize novel mutations associated with PCD in the Faroese population and report and compare free ca...
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Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria...
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Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac myopathy. It is caused by mutations in the sodium-dependent carnitine cotransporter OCTN2. The majority of natural mutations identified in this and other Na(+)/solute symporters introduce premature termination codons or impair insertion of th...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2021
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1583