{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:00:50Z","timestamp":1790550050899,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,1,12]],"date-time":"2010-01-12T00:00:00Z","timestamp":1263254400000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Evidence\u2010based guidelines for monitoring patients with disorders in fatty acid oxidation (FAO) are lacking, and most protocols are based on expert statements. Here, we describe our protocol for Danish patients. Clinical monitoring is the most important measure and has the main aims of checking growth, development and diet and of bringing families to the clinic regularly to remind them of their child's risk and review how they cope and adjust, e.g. to an acute intercurrent illness. Most of these measures are simple and can be carried out during a routine out\u2010patient visit; we seldom do more complicated assessments by a neuropsychologist, speech therapist, or physical and occupational therapists. Paraclinical measurements are not used for short\u2010chain and medium\u2010chain disorders; electrocardiography (including 24 h monitoring) and echocardiography are done for most patients with long\u2010chain and carnitine transporter deficiencies. Eye examination is done in all, and liver ultrasonography in some patients with long\u2010chain 3\u2010hydroxyacyl\u2010coenzyme A dehydrogenase\/tri\u2010functional protein (LCHAD\/TFP) deficiencies. Biochemical follow\u2010up includes determination of free carnitine and acylcarnitines. Free carnitine is measured to monitor carnitine supplementation in patients with multiple acyl\u2010coenzyme A dehydrogenase deficiency (MADD) and carnitine transporter deficiency (CTD) and to follow metabolic control and disclose deficiency states in other FAO disorders. We are evaluating long\u2010chain acylcarnitines in patients with long\u2010chain disorders; so far there does not seem to be any clear\u2010cut benefit in following these levels. An erythrocyte fatty acid profile is done in patients with long\u2010chain disorders to test for essential fatty acid and docosahexanoic acid (DHA) deficiencies. The measurement of creatine kinase is helpful in long\u2010chain disorders. Ongoing follow\u2010up and education of the patient is important throughout life to prevent disease morbidity or death from metabolic crises.<\/jats:p>","DOI":"10.1007\/s10545-009-9000-2","type":"journal-article","created":{"date-parts":[[2010,1,11]],"date-time":"2010-01-11T08:56:07Z","timestamp":1263200167000},"page":"495-500","source":"Crossref","is-referenced-by-count":27,"title":["Clinical and biochemical monitoring of patients with fatty acid oxidation disorders"],"prefix":"10.1002","volume":"33","author":[{"given":"Allan Meldgaard","family":"Lund","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Juliane Marie Centre Copenhagen University Hospital 9 Blegdamsvej Copenhagen 2100 Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flemming","family":"Skovby","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Juliane Marie Centre Copenhagen University Hospital 9 Blegdamsvej Copenhagen 2100 Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helle","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Division of Paediatric Nutrition, Department of Paediatrics, Juliane Marie Centre Copenhagen University Hospital Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Juliane Marie Centre Copenhagen University Hospital 9 Blegdamsvej Copenhagen 2100 Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernst","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Juliane Marie Centre Copenhagen University Hospital 9 Blegdamsvej Copenhagen 2100 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