Inherited Peroxisomal Disorders: Defects in the Oxidation of Very Long Chain Fatty Acids and Phytanic Acid

1987 ◽  
pp. 352-359 ◽  
Author(s):  
A. Poulos ◽  
N. Derwas ◽  
A. J. Fellenberg ◽  
D. W. Johnson ◽  
B. Paton ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Phytanic Acid ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disorders ◽  
Long Chain ◽  
Chain Fatty Acids

Fit-for-purpose biomarker LC–MS/MS qualification for the quantitation of very long chain fatty acids in human cerebrospinal fluid

Bioanalysis ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 143-158
Author(s):  
John Williams ◽  
Kan Zhu ◽  
Eric Crampon ◽  
André Iffland
Keyword(s):  
Fatty Acids ◽  
Cerebrospinal Fluid ◽  
Specific Binding ◽  
Long Chain Fatty Acids ◽  
Absolute Quantitation ◽  
Peroxisomal Disorders ◽  
Healthy Human ◽  
Fit For Purpose ◽  
Long Chain ◽  
Chain Fatty Acids

Aim: Very long chain fatty acids (VLCFAs) have been identified as biomarkers for several peroxisomal disorders necessitating the need for reliable biomarker assays in particular C20, C22, C24, C26 in cerebrospinal fluid (CSF). Until now no absolute quantitation assay for total VLCFAs in CSF has been successfully developed and qualified for clinical use. Methodology: A quantitative LC–MS/MS assay for total VLCFA in human CSF was developed. Derivatization tag and coupling chemistry were optimized for sensitivity. CSF contamination by blood, non-specific binding of VLCFA to surfaces and exogenous VLCFA contamination was minimized. Discussion/conclusion: This fit for purpose biomarker assay was used to measure baseline healthy human VLCFA levels across multiple subjects to establish an understanding of concentration ranges and feasibility.

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.

1988 ◽  
Vol 34 (6) ◽  
pp. 1041-1045 ◽  
Author(s):  
N A Hall ◽  
G W Lynes ◽  
N M Hjelm
Keyword(s):  
Fatty Acids ◽  
Zellweger Syndrome ◽  
Hplc Method ◽  
Gas Chromatography Mass Spectrometry ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disorders ◽  
One Year ◽  
Derivatives Of ◽  
Long Chain ◽  
Chain Fatty Acids

Abstract 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.

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