Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry.
We describe an HPLC method for measurement of ratios of concentrations of very-long-chain fatty acids (VLCFA) in plasma. The method, which involves ultraviolet detection of p-bromophenacyl derivatives of fatty acids, is validated by comparison with a gas chromatographic-mass spectrometric (GC-MS) method. The correlation between the ratios of 24-carbon fatty acids to 22-carbon fatty acids (C24/C22) estimated by the two methods was close (r = 0.976) as was the correlation for the C26/C22 ratios (r = 0.947). Increased VLCFA ratios could be demonstrated by either technique in patients with adrenoleukodystrophy, Zellweger syndrome, and infantile Refsum's disease. The HPLC method also measures phytanate concentrations in plasma. Control VLCFA ratios (for subjects without peroxisomal disorders) obtained by the two methods agree well with those reported by Moser et al. (Ann Neurol 1984; 16:628-41). For subjects younger than one year, ratios for C24/C22 and C26/C22 fatty acids were significantly greater than in older subjects.
Hall
N A
NA
Department of Clinical Biochemistry, Institute of Child Health/Hospitals for Sick Children, London, U.K.
Lynes
G W
GW
Hjelm
N M
NM
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000097:blood; D000328:Adult; D000375:Aging / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood*; D008297:Male; D008830:Microbodies / Q000378:metabolism*; D008875:Middle Aged; D010831:Phytanic Acid / Q000097:blood; D012016:Reference Values; D012035:Refsum Disease / Q000097:blood; D013577:Syndrome
D005227:Fatty Acids; D010831:Phytanic Acid