{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:21:05Z","timestamp":1791145265344,"version":"4.1.0"},"reference-count":69,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1999,6,1]],"date-time":"1999-06-01T00:00:00Z","timestamp":928195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1999,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The oxidation of long\u2010chain fatty acids in mitochondria plays an important role in energy production, especially in skeletal muscle, heart and liver. Long\u2010chain fatty acids, activated to their CoA esters in the cytosol, are shuttled across the barrier of the inner mitochondrial membrane by the carnitine cycle. This pathway includes four steps, mediated by a plasma membrane carnitine transporter, two carnitine palmitoyltransferases (CPT I and CPT II) and a carnitine\u2010acylcarnitine translocase. Defects in activation and uptake of fatty acids affect these four steps: CPT II deficiency leads to either exercise\u2010induced rhabdomyolysis in adults or hepatocardiomuscular symptoms in neonates and children. The three other disorders of the carnitine cycle have an early onset. Hepatic CPT I deficiency is characterized by recurrent episodes of Reye\u2010like syndrome, whereas severe muscular and cardiac signs are associated with episodes of fasting hypoglycaemia in defects of carnitine transport and translocase. Convenient metabolic investigations for reaching the diagnosis of carnitine cycle disorders are determination of plasma free and total carnitine concentrations, determination of plasma acylcarnitine profile by tandem mass spectrometry and <jats:italic>in vitro<\/jats:italic> fatty acid oxidation studies, particularly in fresh lymphocytes. Application of the tools of molecular biology has greatly aided the understanding of the carnitine palmitoyltransferase enzyme system and confirmed the existence of different related genetic diseases. Mutation analysis of CPT II defects has given some clues for correlation of genotype and phenotype. The first molecular analyses of hepatic CPT I and translocase deficiencies were recently reported.<\/jats:p>","DOI":"10.1023\/a:1005552106301","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:31:09Z","timestamp":1040509869000},"page":"428-441","source":"Crossref","is-referenced-by-count":57,"title":["Defects in activation and transport of fatty acids"],"prefix":"10.1002","volume":"22","author":[{"given":"M.","family":"Brivet","sequence":"first","affiliation":[{"name":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Boutron","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Slama","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AP\u2010HP H\u00f4pital de Bic\u00eatre  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Thuillier","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Necker  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Demaugre","sequence":"additional","affiliation":[{"name":"INSERM U370, H\u00f4pital Necker  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Necker  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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