title: Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.
abstract: Profiles of saturated very-long-chain (> C22) fatty acids were studied in plasma, fibroblasts, erythrocytes, platelets, and leukocytes of patients affected by peroxisomal disorders such as Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD), and classic rhizomelic chondrodysplasia punctata (RCDP) and in controls. In Zellweger patients, the concentration of hexacosanoic acid (C26:0) and the C26:0/C22:0 ratio are greatly increased in plasma and fibroblasts. However, the plasma concentration of docosanoic acid (C22:0) is greatly decreased. Also in platelets, leukocytes, and to a lesser extent erythrocytes, the C26:0 concentrations and both the C26:0/C22:0 and C24:0/C22:0 ratios are greatly increased. The C24:0/C22:0 ratio is significantly increased in plasma, platelets, and leukocytes, but not in erythrocytes. In X-ALD, the C26:0 concentration and the C26:0/C22:0 and C24:0/C22:0 ratios are significantly increased in plasma, fibroblasts, platelets, and leukocytes, but the erythrocytes show substantial overlap in the 5-90% ranges between controls and patients. In RCDP, slightly increased C26:0 and C26:0/C22:0 ratios are found in erythrocytes, platelets, and leukocytes, but not in plasma and fibroblasts. We conclude that plasma and fibroblasts are the specimens of choice for biochemical diagnosis of Zellweger syndrome and X-ALD, respectively. The slight increase in C26:0 in blood cells of RCDP patients suggests a decreased flux of very-long-chain fatty acids through the peroxisomal beta-oxidation pathway in liver in this genetic disorder.
authors.affiliation: University Hospital of Amsterdam, Department of Pediatrics, The Netherlands.
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: I W
authors.initials: IW
authors.lastname: Bouman
authors.forename: A A
authors.initials: AA
authors.lastname: Nijenhuis
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: M E
authors.initials: ME
authors.lastname: Frumau
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood* / Q000378:metabolism; D001792:Blood Platelets / Q000378:metabolism; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000097:blood* / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005227:Fatty Acids / Q000097:blood* / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D015211:Zellweger Syndrome / Q000097:blood* / Q000378:metabolism
chemical_list: D005227:Fatty Acids