Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes.
The plasma of patients with inherited defects in peroxisomal biogenesis (ie, Zellweger's syndrome, infantile Refsum's disease, and neonatal adrenoleukodystrophy) shows evidence of a disturbance in the metabolism of saturated and monoenoic fatty acids with carbon chain lengths greater than 22 (VLCFA). Zellweger's syndrome plasma alone contains, in addition, increased amounts of a number of n-6 polyenoic VLCFA including 24:5, 26:5, 28:5, 30:5, and 30:6 fatty acids. These fatty acids facilitate the biochemical discrimination of Zellweger's syndrome from other related phenotypes.
Poulos
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Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
Sharp
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P
Johnson
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D
D000326:Adrenoleukodystrophy / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000097:blood*; D005227:Fatty Acids / Q000097:blood*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008830:Microbodies / Q000648:ultrastructure; D010641:Phenotype; D012035:Refsum Disease / Q000097:blood* / Q000175:diagnosis; D014960:X Chromosome; D015211:Zellweger Syndrome / Q000097:blood* / Q000175:diagnosis
D005227:Fatty Acids