Results 1 to 10 of about 100,000 (276)

Primary carnitine deficiency is a life‐long disease [PDF]

JIMD Reports, 2022
Primary carnitine deficiency is a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy and sudden cardiac death. Effective treatment with carnitine supplementation is available.
Loek L. Crefcoeur, Mireille C. Melles, Tobias A. Bruning, Rob Rodrigues Pereira, Janneke G. Langendonk   +4 more
doaj   +9 more sources

Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation [PDF]

JIMD Reports, 2023
Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly ...
Lebreton Louis, Gaschignard Margaux, Guibet Claire, Lamireau Delphine, Roche Sandrine, Richard Emmanuel, Ged Cécile, Mesli Samir, Redonnet‐Vernhet Isabelle   +8 more
doaj   +5 more sources

The global prevalence and genetic spectrum of primary carnitine deficiency [PDF]

BMC Genomic Data
Background Primary carnitine deficiency (PCD) is an autosomal recessive rare disorder of carnitine cycle and carnitine transport caused by pathogenic variants in the SLC22A5 gene. The prevalence of PCD is unclear. This study aimed to estimate the carrier
Liu Sun, Ke Yao, Hang-Jing Wu
doaj   +7 more sources

Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics [PDF]

Italian Journal of Pediatrics
Background Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions.
Haili Hu, Qingqing Ma, Yan Wang, Wangsheng Song, Hongyu Xu   +4 more
doaj   +5 more sources

Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands [PDF]

JIMD Reports, 2023
Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation.
Rannvá K. Abrahamsen, Allan M. Lund, Jan Rasmussen   +2 more
doaj   +5 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   +5 more sources

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland.
Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu   +5 more
doaj   +5 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   +7 more sources

Primary carnitine deficiency in a neonate

Archives of Medicine and Health Sciences, 2021
Carnitine deficiency in paediatrics can present in infants with episodes of irritability, lethargy and hepatomegaly. The main treatment for primary carnitine deficiency is to take L-carnitine supplements.
Manish Rasania, Naveed Majid Ahmed, Bhatt Vivek Prafulchandra, Shashank Jain   +3 more
doaj   +4 more sources

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China [PDF]

Frontiers in Genetics, 2022
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2).
Siyu Chang, Yi Yang, Feng Xu, Wenjun Ji, Xia Zhan, Xiaolan Gao, Ting Chen, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Kaichuang Zhang, Xuefan Gu, Lianshu Han   +13 more
doaj   +4 more sources