{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:16:55Z","timestamp":1790889415299,"version":"4.1.0"},"reference-count":59,"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>In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57 are still living. Including 47 siblings who died early in infancy, in total 97 patients died, of whom 30% died within the first week of life and 69% before 1 year. Twenty\u2010eight patients presented in the neonatal period with sudden death, heart beat disorders, or neurological distress with various metabolic disturbances. Hepatic presentations were observed in 73% of patients (steatosis, hypoketotic hypoglycaemia, hepatomegaly, Reye syndrome). True hepatic failure was rare (10%); cholestasis was observed in one patient with LCHAD deficiency. Cardiac presentations were observed in 51% of patients: 67% patients presented with cardiomyopathy, mostly hypertrophic, and 47% of patients had heart beat disorders with various conduction abnormalities and arrhythmias responsible for collapse, near\u2010miss and sudden unexpected death. All enzymatic blocks affecting FAO except CPT I and MCAD were found associated with cardiac signs. Muscular signs were observed in 51% of patients (of whom 64% had myalgias or paroxysmal myoglobinuria, and 29% had progressive proximal myopathy). Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. The diagnosis of FAO disorders is generally based on the plasma acylcarnitine profile determined by FAB\u2010MS\/MS from simple blood spots collected on a Guthrie card. Urinary organic acid profile and total and free plasma carnitine can also be very helpful, mostly in acute attacks. If there is no significant disturbance between attacks, the diagnosis is based upon a long\u2010chain fatty acid loading test, fasting test, and in vitro studies of fatty acid oxidation on fresh lymphocytes or cultured fibroblasts. Treatment includes avoiding fasting or catabolism, suppressing lipolysis, and carnitine supplementation. The long\u2010term dietary therapy aims to prevent periods of fasting and restrict long\u2010chain fatty acid intake with supplementation of medium\u2010chain triglycerides. Despite these therapeutic measures, the long\u2010term prognosis remains uncertain.<\/jats:p>","DOI":"10.1023\/a:1005556207210","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:31:09Z","timestamp":1040509869000},"page":"487-502","source":"Crossref","is-referenced-by-count":287,"title":["Recognition and management of fatty acid oxidation defects: A series of 107 patients"],"prefix":"10.1002","volume":"22","author":[{"given":"J. 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P.","family":"Bonnefont","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Necker Enfants\u2010Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Necker Enfants\u2010Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kamoun","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Necker Enfants\u2010Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Brivet","sequence":"additional","affiliation":[{"name":"Department of Biochemistry H\u00f4pital Bic\u00eatre  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1999,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199411000-00007"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442082"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70385-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072043"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80834-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000456329503200204"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799424"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005552106301"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70257-8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.12.1557"},{"key":"e_1_2_1_12_1","first-page":"1133","article-title":"Glutaric acidemia Type II","volume":"112","author":"Colevas AD","year":"1988","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113978"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115090"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4115.929"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80039-3"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70206-8"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.179.4076.899"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199207023270105"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-03147-6_2"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198401263100404"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00048-9"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01801667"},{"key":"e_1_2_1_24_1","volume-title":"Poster, 7th International Congress of Inborn Errors of Metabolism","author":"Greenberg CR","year":"1997"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82532-6"},{"key":"e_1_2_1_26_1","first-page":"503","volume-title":"Fatty Acid Oxidation: Clinical, Biochemical and Molecular aspects","author":"Hale DE","year":"1990"},{"key":"e_1_2_1_27_1","first-page":"503","article-title":"The L\u20103\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency","volume":"321","author":"Hale DE","year":"1990","journal-title":"Prog Clin Biol"},{"issue":"2","key":"e_1_2_1_28_1","first-page":"O6","article-title":"supplementation upon retinal function in children with long chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency","volume":"21","author":"Harding CO","year":"1998","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80401-8"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112263252607"},{"key":"e_1_2_1_31_1","article-title":"An expanding spectrum of metabolic disorders can cause acute fatty liver of pregnancy (AFLP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), and hyperemesis gravidarum","volume":"252","author":"Innes AM","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799385"},{"key":"e_1_2_1_33_1","first-page":"339","volume-title":"New Developments in Fatty Acid Oxidation. 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