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 +3 more
doaj +6 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 +2 more
doaj +7 more sources
Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.
Sarah C. Grünert +8 more
doaj +4 more sources
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 +4 more
doaj +6 more sources
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS).
Lieke M. van den Heuvel +6 more
doaj +4 more sources
The global prevalence and genetic spectrum of primary carnitine deficiency [PDF]
BMC Genomic DataBackground 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
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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 +5 more
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Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency [PDF]
Annals of Noninvasive Electrocardiology, 2023 We report the case of a 13‐year‐old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate‐corrected QT interval with imaging showing significant left ventricular dysfunction.
Oliver P. Hanington +4 more
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Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics [PDF]
Italian Journal of PediatricsBackground 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 +4 more
doaj +4 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 +8 more
doaj +2 more sources