{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:24:39Z","timestamp":1793748279444,"version":"4.6.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,3]],"date-time":"2012-10-03T00:00:00Z","timestamp":1349222400000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mitochondrial fatty acid \u03b2\u2010oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with favorable prognosis following diagnosis. A description of the broad range of phenotypes resulting from these defects remains incomplete, and for this study, we sought to investigate the semiology at diagnosis in a country without a newborn screening program for FAODs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using a retrospective French multicentre study, we analyzed 187 children aged &lt;6 years at diagnosis with FAOD confirmed by enzymatic and\/or molecular analyses. Clinical and biological parameters at diagnosis were assessed to screen liver, heart, neurological, and muscle symptoms. Information concerning the long\u2010term prognosis was also collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Predominant hepatic symptoms were observed in 89 % of patients regardless of the underlying defect. The most frequent symptoms observed were hepatomegaly (92 %), increased blood alanine aminotransferase (ALAT) level (82 %), and steatosis (88 %). Other frequent features included Reye syndrome (49 %), increased gamma\u2010glutamyltranspeptidase (GGT) (37 %), and liver failure (27 %). Extrahepatic features were often associated in the foreground. Hypoglycemia (75 %), neurological (64 %), muscle (61 %), or cardiac features (55 %) [as either cardiomyopathy (47 %) or arrhythmias (31 %)] were frequently documented. Hemodynamic events (41 %) were represented by shock (31 %) or sudden death (35 %). Hyperammonemia (73 %) and hyperlactacidemia (57 %) were the two main biochemical features. Total, very\u2010long\u2010chain acyl\u2010CoA dehydrogenase (VLCADD), long\u2010chain 3\u2010hydroxyacylCoA dehydrogenase (LCHADD), and medium\u2010chain acyl\u2010CoA dehydrogenase (MCADD) deficiency mortality rates were 48 %, 60 %, 63 %, and 20 % respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study presents clinical features of a large cohort of patients with FAODs in a country without neonatal screening for FAODs. Our results highlight liver as the main organ involved at diagnosis regardless of age at diagnosis, classical phenotype (i.e., cardiac, hepatic, or muscular), or enzyme deficiency. Although steatosis may be observed in various inherited metabolic defects, it is a reliable indicator of FAOD and should prompt systematic screening when the diagnosis is suspected. The poor long\u2010term prognoses reported are a strong argument for inclusion of FAODs in newborn screening programs.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-012-9542-6","type":"journal-article","created":{"date-parts":[[2012,10,2]],"date-time":"2012-10-02T07:52:24Z","timestamp":1349164344000},"page":"795-803","source":"Crossref","is-referenced-by-count":87,"title":["Clinical and biological features at diagnosis in mitochondrial fatty acid beta\u2010oxidation defects: a French pediatric study of 187 patients"],"prefix":"10.1002","volume":"36","author":[{"given":"Julien","family":"Baruteau","sequence":"first","affiliation":[{"name":"H\u00e9patologie P\u00e9diatrique et Maladies M\u00e9taboliques H\u00f4pital des Enfants\u2013CHU Toulouse Toulouse France"},{"name":"H\u00e9patogastroent\u00e9rologie P\u00e9diatrique et Maladies M\u00e9taboliques 330 avenue de Grande Bretagne, H\u00f4pital des Enfants Toulouse cedex 9 31059 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