Left ventricular noncompaction in primary systemic carnitine deficiency: A rare association
Annals of Pediatric Cardiology, 2021 Left ventricular noncompaction (LVNC) is a rare phenotype of dilated cardiomyopathy. We report a child with primary systemic carnitine deficiency having associated LVNC.
DeepanjanBhattacharya +3 more
doaj +2 more sources
Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area [PDF]
Frontiers in Pediatrics, 2019 Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter.
Wei Zhou +5 more
doaj +3 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 +3 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 +2 more
openalex +4 more sources
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns [PDF]
JIMD Reports, 2023 In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (
Loek L. Crefcoeur +4 more
doaj +2 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 +2 more
doaj +2 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 +7 more
doaj +2 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 +13 more
doaj +2 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 +7 more
doaj +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 +6 more
openalex +4 more sources