title: Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
abstract: A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.
authors.affiliation: Department of Paediatrics, University of Genova, Italy. minettic@unige.it
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: F
authors.initials: F
authors.lastname: Invernizzi
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: R
authors.initials: R
authors.lastname: Pons
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: G
authors.initials: G
authors.lastname: Cordone
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002478:Cells, Cultured; D002648:Child; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000473:pathology / Q000652:urine; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009212:Myoglobinuria; D012008:Recurrence; D012867:Skin / Q000201:enzymology
chemical_list: D005230:Fatty Acids, Nonesterified; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain