Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in ...
Newborn screeningPrimary carnitine deficiencySLC22A5Background 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, ...
In cases of maternal primary carnitine deficiency, few infants were found to have dramatically reduced levels of carnitine in newborn screening. However, these levels rapidly normalized with supplementation. The diagnostic work-up revealed that their mothers had primary carnitine deficiency and were asymp...
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal val...
The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS). Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven ...
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Primary carnitine deficiency and newborn screening for disorders of the carnitine cycle. Ann Nutr Metab 2016;68:5–9. https://doi.org/10.1159/000448321.Search in Google Scholar PubMed 9. Longo, N, Frigeni, M, Pasquali, M. Carnitine transport and fatty acid oxidation. Biochim Biophys Acta...
Mothers with primary carnitine deficiency can also be identified by low carnitine levels in their infant by newborn screening. 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, ...
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lowe... Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). Howeve...
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 mitoch...