Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aimed to systematically analyze the incidence of PCD in China and ...
Carnitine plays a key role in the oxidation of fatty acids. Most solutions for parenteral nutrition do not contain carnitine. Because endogeneous carnitine synthesis is insufficient in newborns, they are prone to developing a carnitine deficiency when they are dependent on total parenteral nutrition (...
Background and aims Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by functional defects in the carnitine transporter OCTN2 due to mutations in SLC22A5. Here, we aimed to understand the incidence, clinical, biochemical, and molecular features of PCD in Quanzhou, China...
within the United States.[4]Primary carnitine deficiency can be identified in infants by expanded newborn screening using tandem mass spectrometry.[5]Low levels of free carnitine (C0) are detected. However, low carnitine levels in newborns may also reflect maternal primary carnitine deficiency. ...
Carnitine/acylcarnitine translocase deficiency (CACT) is caused by a defect in the translocase protein in the inner mitochondrial membrane (see Fig. 4.1) that transports longchain acyl-carnitine into the mitochondrial matrix in exchange for transporting free carnitine out of the mitochon...
Patients with carnitine deficiency develop hypoglycemia and the accumulation of fat within organs leads to hepatic steatosis, cardiomyopathy and muscle weakness. Prevalence Primary carnitine deficiency has a frequency of about 1:40,000 newborns in Japan [2] and 1:37,000–1:100,000 newborns in ...
Decanoyl-L-carnitine, belonging to the class of acylcarnitines, serves as a specific diagnostic metabolite biomarker, found in medium-chain acyl CoA dehydrogenase (MCAD) deficiency especially in newborns. Biochem/physiol Actions Decanoylcarnitine is useful in the diagnosis of fatty acid oxidation disorde...
Primary carnitine deficiency is rare (1:40,000–1:140,000 newborns) except in the Faroe Islands (1:300) due to a founder effect. A specific mutation (c.95A>G, p.N32S) is prevalent, but not unique, with three additional mutations (c.131C>T/p.A44V, a splice mutation c.825-52G...
These data suggest that newborn infants, especially premature babies, are born with limited tissue reserves of carnitine and are therefore at an increased risk for developing carnitine deficiency and its adverse effects in the postnatal period, particularly if maintained on carnitine-free intravenous ...
The deficiency does not allow the breakdo... R Pol,S Janvekar,R Vanaki,... 被引量: 0发表: 2020年 Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut Carnitine palmitoyltransferase 1A (CPT1A), encoded by the gene CPT1A...