Results 21 to 30 of about 33,228 (280)

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

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

Molecular investigation in Chinese patients with primary carnitine deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation caused by mutations in the SLC22A5 that lead to low serum carnitine levels and decreased intracellular carnitine accumulation.
Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang   +9 more
doaj   +2 more sources

A case of atypical systemic primary carnitine deficiency in Saudi Arabia [PDF]

Pediatric Reports, 2018
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on
Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami   +4 more
doaj   +2 more sources

Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2021
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 ( SLC22A5 ) gene that encodes a high-affinity sodium-ion–dependent organic cation transporter protein (
Michael Jakoby MD, MA, Amruta Jaju MD, Aundrea Marsh BS, Andrew Wilber PhD   +3 more
doaj   +2 more sources

Primary carnitine deficiency and cardiomyopathy. [PDF]

Korean Circ J, 2013
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.
Fu L, Huang M, Chen S.
europepmc   +4 more sources

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited.
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang   +6 more
doaj   +2 more sources

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn [PDF]

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +2 more sources

Newborn screening for primary carnitine deficiency [PDF]

, 2023
Primary carnitine deficiency (PCD) is an inherited error of metabolism which results in severely decreased blood carnitine levels caused by a poorly functioning carnitine transport protein (OCTN2). Low blood carnitine levels may cause low blood sugar or cardiac issues, which may be fatal. Treatment consists of carnitine suppletion.
Loek Lennard Crefcoeur
openalex   +3 more sources

Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency [PDF]

Molecular Genetics & Genomic Medicine
Background Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test.
Yiming Lin, Zhenzhu Zheng, Weihua Lin, Weilin Peng   +3 more
doaj   +2 more sources