Results 31 to 40 of about 100,000 (276)

Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus. [PDF]

Child Neurol Open, 2023
Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter.
Khries M, Lim A, Mitra D, Anderson M, Bengtsson J, Bowron A, Harris E, Blickwedel J, Wood K, Basu AP.   +9 more
europepmc   +2 more sources

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach. [PDF]

J Inherit Metab Dis, 2022
A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening ...
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B.   +5 more
europepmc   +2 more sources

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis. [PDF]

Orphanet J Rare Dis
Background Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions.
Zhou J, Li G, Zeng Y, Qiu X, Zhao P, Huang T, Wang X, Luo J, Lin N, Xu L.   +9 more
europepmc   +2 more sources

Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands [PDF]

International Journal of Neonatal Screening, 2017
Primary carnitine deficiency is caused by the defective OCTN2 carnitine transporter encoded by the SLC22A5 gene. A lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy,
Ulrike Steuerwald, Allan M. Lund, Jan Rasmussen, Nils Janzen, David M. Hougaard, Nicola Longo   +5 more
doaj   +2 more sources

A LATE PRIMARY CARNITINE DEFICIENCY DIAGNOSIS IN ADULTHOOD DURING ARRHYTHMIC RISK REASSESSMENT IN HYPERTROPHIC CARDIOMYOPATHY [PDF]

European Heart Journal, Supplement
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, typically caused by mutations in cardiac sarcomere protein genes.
C. Ciampi, R. Abete, C. Vittori, R. Sebastiani, A. Iorio, A. Mancinelli, P. De Filippo, A. Terzi, M. Senni, A. Iacovoni   +9 more
semanticscholar   +2 more sources

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2018
Primary carnitine deficiency (PCD) is an inborn error of fatty acid metabolism. Patients with PCD are risk for sudden heart failure upon fasting or illness if they are not treated with daily l-carnitine.To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment.Interventional study.Hospital exercise ...
Karen L. Madsen, Nicolai Preisler, Jan Rasmussen, Gitte Hedermann, Jess Have Olesen, Allan M. Lund, John Vissing   +6 more
openalex   +4 more sources

Increased primary carnitine deficiency detection through second-tier newborn genetic screening

, 2021
Background Newborn screening for (NBS) for primary carnitine deficiency (PCD) is widely implemented worldwide, however, with poor sensitivity. This study aimed to evaluate the feasibility of improving the screening using second-tier genetic assay ...
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen   +7 more
semanticscholar   +2 more sources

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency [PDF]

BMC Pediatrics, 2019
Background Maternofetal carnitine transport through the placenta is the main route of fetal carnitine uptake. Decreased free carnitine levels discovered by newborn screening has identified many asymptomatic adult women with systemic primary carnitine ...
Si Chen, Yingying Hu, Yumei Huang, Yan Nan, Xiaojian Zhou, Shangqin Chen, Jin Lin, Zhenlang Lin   +7 more
doaj   +2 more sources

Abnormal Sodium Stimulation of Carnitine Transport in Primary Carnitine Deficiency [PDF]

Journal of Biological Chemistry, 2000
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 ...
Yuhuan Wang, Telly A. Meadows, Nicola Longo   +2 more
openalex   +4 more sources

Functional Domains in the Carnitine Transporter OCTN2, Defective in Primary Carnitine Deficiency [PDF]

Journal of Biological Chemistry, 2003
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 Na+-dependent organic cation transporter, OCTN2. To define the domains involved in carnitine recognition, we evaluated chimeric transporters created by ...
Cristina Amat Di San Filippo, Yuhuan Wang, Nicola Longo   +2 more
openalex   +4 more sources