Increased risk of sudden death in untreated primary carnitine deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12158
Abstract: Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD,… read more here.
Keywords: sudden death; death; carnitine deficiency; pcd ... See more keywords
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12475
Abstract: 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… read more here.
Keywords: case case; carnitine deficiency; primary carnitine; case ... See more keywords
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1583
Abstract: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD… read more here.
Keywords: spectrum clinical; primary carnitine; carnitine deficiency; gene spectrum ... See more keywords
A combination of dexmedetomidine and ketamine for a child with primary carnitine deficiency posted for cataract extraction
Sign Up to like & getrecommendations! Published in 2017 at "Trends in Anaesthesia and Critical Care"
DOI: 10.1016/j.tacc.2017.01.061
Abstract: Abstract Primary carnitine deficiency (PCD) is an inherited disorder of fatty acid metabolism. Patients with PCD pose pertinent anaesthetic risk factors which need to be addressed before taking up for surgery under anaesthesia. Inappropriate selection… read more here.
Keywords: dexmedetomidine ketamine; carnitine deficiency; ketamine; combination dexmedetomidine ... See more keywords
Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096211019543
Abstract: 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… read more here.
Keywords: carnitine deficiency; solute carrier; carrier family; primary carnitine ... See more keywords
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency
Sign Up to like & getrecommendations! Published in 2019 at "BMC Pediatrics"
DOI: 10.1186/s12887-019-1452-4
Abstract: BackgroundMaternofetal 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 deficiency (PCD). Here,… read more here.
Keywords: carnitine deficiency; mother; day; primary carnitine ... See more keywords
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1062715
Abstract: 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). Patients with PCD may be at risk of skeletal or… read more here.
Keywords: carnitine deficiency; pcd; genetic characteristics; primary carnitine ... See more keywords