Results 221 to 230 of about 100,000 (276)

Primary and Secondary Carnitine Deficiency Syndromes

Journal of Child Neurology, 1995
The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial β-oxidation cycle. Carnitine is central to the translocation
R, Pons, D C, De Vivo
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Newborn screening for primary carnitine deficiency using a second-tier genetic test

Journal of Pediatric Endocrinology & Metabolism (JPEM)
Objectives Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0 ...
Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Chenggang Huang, Weilin Peng   +4 more
semanticscholar   +1 more source

Pharmacological rescue of carnitine transport in primary carnitine deficiency

Human Mutation, 2006
Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which missense mutations impaired carnitine transport, the OCTN2 transporter was tagged with the ...
Cristina, Amat di San Filippo, Marzia, Pasquali, Nicola, Longo   +2 more
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Pericardial effusion in primary systemic carnitine deficiency

Journal of Inherited Metabolic Disease, 2006
SummaryA patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.−77G>A, c.−78C&
Duangrurdee, Wattanasirichaigoon, Pongsak, Khowsathit, Anannit, Visudtibhan, Umaporn, Suthutvoravut, Dussadee, Charoenpipop, Sook Z, Kim, Harvey L, Levy, Vivian E, Shih   +7 more
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Primary carnitine deficiency.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1990
Carnitine deficiency can be defined as a decrease of intracellular carnitine, leading to an accumulation of acyl-CoA esters and an inhibition of acyl-transport via the mitochondrial inner membrane. This may cause disease by the following processes. A.
H R, Scholte, R, Rodrigues Pereira, P C, de Jonge, I E, Luyt-Houwen, M, Hedwig, M, Verduin, J D, Ross   +6 more
openaire   +1 more source

Increased risk of sudden death in untreated primary carnitine deficiency

Journal of Inherited Metabolic Disease, 2020
Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD, 1:300.
J. Rasmussen, M. Duno, A. Lund, U. Steuerwald, S. Hansen, H. D. Joensen, L. Køber, O. Nielsen   +7 more
semanticscholar   +1 more source

Functional Characterization of the Carnitine Transporter Defective in Primary Carnitine Deficiency

Archives of Biochemistry and Biophysics, 1999
Primary carnitine deficiency is an autosomal recessive disorder caused by defective carnitine transport which impairs fatty acid oxidation and manifests as nonketotic hypoglycemia or skeletal or heart myopathy. Here we report the functional characterization of this transporter in human fibroblasts.
F, Scaglia, Y, Wang, N, Longo
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Expanded newborn screening identifies maternal primary carnitine deficiency

Molecular Genetics and Metabolism, 2007
Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry.
Lisa A, Schimmenti, Eric A, Crombez, Bernd C, Schwahn, Bryce A, Heese, Timothy C, Wood, Richard J, Schroer, Kristi, Bentler, Stephen, Cederbaum, Kiki, Sarafoglou, Mark, McCann, Piero, Rinaldo, Dietrich, Matern, Cristina Amat, di San Filippo, Marzia, Pasquali, Susan A, Berry, Nicola, Longo   +15 more
openaire   +2 more sources

Systemic Primary Carnitine Deficiency

2014
Primary systemic carnitine deficiency is a potentially lethal but very treatable inborn error of fatty acid oxidation, which is due to a defect in the high-affinity carnitine transporter (OCTN2) expressed in the muscle, heart, kidney, lymphoblasts, and fibroblasts.
openaire   +1 more source

Primary systemic carnitine dehciency. II. Renal handling of carnitine

Neurology, 1981
Renal tubular reabsorption rates, reabsorptive maxima, and apparent renal plasma excretory thresholds for carnitine were determined in four children with primary systemic carnitine deficiency (SCD), in two of the mothers of these children, in one patient with muscle carnitine deficiency (MCD), and in seven controls. In SCD the observed values were well
A G, Engel, C J, Rebouche, D M, Wilson, A M, Glasgow, C A, Romshe, R P, Cruse   +5 more
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