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 ...
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. ...
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...
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...
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...
Dietary fish oil attenuates cardiac hypertrophy in lipotoxic cardiomyopathy due to systemic carnitine deficiency. Cardiovasc Res 2005;68:213-23.Dietary fish ... R Takahashi,K Okumura,T Asai,... - 《Cardiovascular Research》 被引量: 158发表: 2005年 Diagnoses of newborns and mothers with carnitine...
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 ...
1.an enzyme that reversibly forms acylcarnitines and coenzyme A from carnitine and acylcoenzyme A (often, palmitoyl-CoA); important in fatty acid oxidation. Deficiency of isozyme I results in ketogenesis with hypoglycemia; deficiency of isozyme II affects primarily skeletal muscle. ...
Carnitine concentration also is lower in pregnant women, leading to relatively low amounts in newborns, sometimes leading to diagnostic confusion with a primary deficiency in the baby or mother. Accordingly, infant formulas (especially soy-based formulas) are supplemented with carnitine to match ...
Therefore, low carnitine levels in infants might unmask primary carnitine deficiency in the mother [104], [109], [110], [111], [112], [113], [120], [121]. Additional maternal conditions that can cause low carnitine levels in newborns include maternal glutaric acidemia type I [122], ...