title: Diagnosis of mitochondrial fatty acid oxidation defects.
abstract: Inherited defects of mitochondrial beta-oxidation of fatty acids lead to hypoketotic hypoglycemia during prolonged fasting. Affected patients may present with episodes of a Reye-like illness or even sudden child death. The number of currently detected patients with medium-chain acyl-CoA dehydrogenase deficiency--the most common disease in this area--is indicative of a high frequency, possibly comparable to that of phenylketonuria. A comprehensive system of biochemical analyses is described, which enables the differential diagnosis of the various defects. An indispensable part of the diagnostic system is the gas chromatographic/mass spectrometric analysis of plasma and urinary organic acids. A correct diagnosis is a prerequisite for the installment of specific treatment.
authors.affiliation: University Children's Hospital Het Wilhelmina Kinderziekenhius, Utrecht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: L
authors.initials: L
authors.lastname: Bruinvis
authors.forename: D
authors.initials: D
authors.lastname: Ketting
authors.forename: L
authors.initials: L
authors.lastname: Dorland
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism*; D008954:Models, Biological; D010084:Oxidation-Reduction
chemical_list: D005227:Fatty Acids; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase