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As a group, the \u03b2\u2010oxidation defects are among the most common inherited metabolic disorders, and LCHAD deficiency appears to be the most frequently diagnosed \u03b2\u2010oxidation defect in Finland. In the vast majority of patients, LCHAD deficiency is caused by a common autosomal recessive mutation G1528C. Like several \u03b2\u2010oxidation defects, it presents during infancy with hypoglycemic coma, hepatic steatosis, and hypocarnitinemia. Other manifestations are cardiomyopathy and rhabdomyolysis, which are frequent in defects of long\u2010chain fatty acid oxidation. In addition, LCHAD deficiency has specific features, namely peripheral neuropathy and chorioretinopathy. Female carriers of LCHAD deficiency are prone to have preeclampsia\u2010related pregnancy complications. Diagnosis is suggested by 3\u2010hydroxylated acylcarnitine species in blood and the definitive diagnosis can be made by measuring intermediates of fatty acid \u03b2\u2010oxidation in fibroblasts or by detecting disease causing mutations. Analysis of the frequency of the G1528C mutation in Finland revealed carrier frequency of 1:240. Because of therapeutic and prenatal diagnostic opportunities in LCHAD deficiency, it is important to recognize this severe disorder early in its course.<\/jats:p>","DOI":"10.1111\/j.1651-2227.1999.tb01089.x","type":"journal-article","created":{"date-parts":[[2010,8,7]],"date-time":"2010-08-07T02:17:27Z","timestamp":1281147447000},"page":"237-245","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":90,"title":["Long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency"],"prefix":"10.1111","volume":"88","author":[{"given":"T","family":"Tyni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Pihko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,1,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1501","volume-title":"The metabolic and molecular bases of inherited disease","author":"Roe CR","year":"1995"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90361-8"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.1368"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(93)90058-9"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(92)91350-Y"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)90300-0"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(92)90501-B"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/S0021-9258(18)48391-3","article-title":"Novel fatty acid \u03b2\u2010 oxidation enzymes in rat liver mitochondria II. 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