Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

• Published in: Journal of inherited metabolic disease Vol. 33; no. 5; pp. 495 - 500
• Main Authors: Lund, Allan Meldgaard, Skovby, Flemming, Vestergaard, Helle, Christensen, Mette, Christensen, Ernst
• Format: Journal Article
• Language: English
• Published: Dordrecht Dordrecht : Springer Netherlands 01.10.2010; Springer Netherlands; Springer; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; Biochemistry; Biological and medical sciences; Biomarkers - blood; Child; Child, Preschool; Continuity of Patient Care; Energy Metabolism - genetics; Fatty Acid Oxidation; Fatty Acids - metabolism; Genotype; Health Knowledge, Attitudes, Practice; Human Genetics; Humans; Infant; Infant, Newborn; Internal Medicine; Lipid Metabolism, Inborn Errors - diagnosis; Lipid Metabolism, Inborn Errors - enzymology; Lipid Metabolism, Inborn Errors - genetics; Lipid Metabolism, Inborn Errors - therapy; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Mitochondria - enzymology; Mitochondrial Diseases - diagnosis; Mitochondrial Diseases - enzymology; Mitochondrial Diseases - genetics; Mitochondrial Diseases - therapy; Oxidation-Reduction; Patient Education as Topic; Pediatrics; Phenotype; Predictive Value of Tests; Prognosis; Time Factors; Young Adult; Creatine Kinase; Pivmecillinam; Carnitine Supplementation; Free Carnitine; Carnitine; Human; Nutrition; Surveillance; Lipids; Genetics; Patient; Metabolic diseases; Biochemistry; Oxidation; Fatty acids; Monitoring; Genetic disease
• ISSN: 0141-8955; 1573-2665; 1573-2665
• DOI: 10.1007/s10545-009-9000-2

Evidence-based 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-patient visit; we seldom do more complicated assessments by a neuropsychologist, speech therapist, or physical and occupational therapists. Paraclinical measurements are not used for short-chain and medium-chain disorders; electrocardiography (including 24 h monitoring) and echocardiography are done for most patients with long-chain and carnitine transporter deficiencies. Eye examination is done in all, and liver ultrasonography in some patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase/tri-functional protein (LCHAD/TFP) deficiencies. Biochemical follow-up includes determination of free carnitine and acylcarnitines. Free carnitine is measured to monitor carnitine supplementation in patients with multiple acyl-coenzyme 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-chain acylcarnitines in patients with long-chain disorders; so far there does not seem to be any clear-cut benefit in following these levels. An erythrocyte fatty acid profile is done in patients with long-chain disorders to test for essential fatty acid and docosahexanoic acid (DHA) deficiencies. The measurement of creatine kinase is helpful in long-chain disorders. Ongoing follow-up and education of the patient is important throughout life to prevent disease morbidity or death from metabolic crises.