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

Orphanet J Rare Dis, 2022
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate ...
Lin Y, Lin B, Chen Y, Zheng Z, Fu Q, Lin W, Zhang W.   +6 more
europepmc   +4 more sources

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay. Results
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen   +7 more
doaj   +3 more sources

Rare case of primary carnitine deficiency presenting as acute liver failure. [PDF]

BMJ Case Rep, 2022
Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation.
Jain S, Kumar K, Malhotra S, Sibal A.
europepmc   +4 more sources

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China [PDF]

Frontiers in Genetics, 2021
Primary carnitine deficiency (PCD) is an autosomal recessive disorder that could result in sudden death. It is caused by a defect in the carnitine transporter encoded by SLC22A5 (Solute Carrier Family 22 Member 5, MIM:603377).
Xiangchun Yang, Qiong Li, Fei Wang, Lulu Yan, Danyan Zhuang, Haiyan Qiu, Haibo Li, Liang Chen   +7 more
doaj   +3 more sources

Systemic primary carnitine deficiency with hypoglycemic encephalopathy [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
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.
Jae Sung Jun, Eun Joo Lee, Hyung Doo Park, Hae Sook Kim   +3 more
doaj   +4 more sources

Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy. [PDF]

JACC Case Rep
Stafford SG, Sang CJ, Jensen BC, Sivak JA, Weickert TT.   +4 more
europepmc   +3 more sources

Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy [PDF]

Case Reports in Cardiology, 2018
A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with ...
Stephen Tomlinson, John Atherton, Sandhir Prasad   +2 more
doaj   +5 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   +4 more sources

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study. [PDF]

J Med Genet, 2023
Background Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M.   +17 more
europepmc   +2 more sources

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency. [PDF]

Mol Syndromol, 2023
Introduction: 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 ...
Basan H, Azak E, Çetin İİ, Kiliç E, Bilginer Gürbüz B, Özbey SZ, Kasapkara ÇS.   +6 more
europepmc   +2 more sources