The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

1985 ◽  
Vol 69 (1-2) ◽  
pp. 9-25 ◽  
Author(s):  
Patrick Aubourg ◽  
Olivier Robain ◽  
Francis Rocchiccioli ◽  
Sylvia Dancea ◽  
Jacques Scotto
Keyword(s):  
Fatty Acids ◽  
Phytanic Acid ◽  
Zellweger Syndrome ◽  
Lipid Profiles ◽  
Long Chain Fatty Acids ◽  
Long Chain ◽  
Chain Fatty Acids

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.

Very long chain fatty acids in genetic peroxisomal disease fibroblasts: Differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants

1986 ◽  
Vol 161 (1) ◽  
pp. 81-90 ◽  
Author(s):  
Brunhilde Molzer ◽  
Marina Korschinsky ◽  
Hanno Bernheimer ◽  
Rainer Schmid ◽  
Christian Wolf ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Zellweger Syndrome ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disease ◽  
Long Chain ◽  
Chain Fatty Acids

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening

1993 ◽  
Vol 16 (1) ◽  
pp. 63-66 ◽  
Author(s):  
C. Jakobs ◽  
C. M. M. van den Heuvel ◽  
F. Stellaard ◽  
C. Largillière ◽  
F. Skovby ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Neonatal Screening ◽  
Zellweger Syndrome ◽  
Long Chain Fatty Acids ◽  
Blood Spots ◽  
Stored Blood ◽  
Long Chain ◽  
Chain Fatty Acids

Very long chain fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome

1989 ◽  
Vol 148 (6) ◽  
pp. 581-581 ◽  
Author(s):  
C. Jakobs ◽  
H. ten Brink ◽  
R. M. Kok ◽  
F. Stellaard ◽  
W. J. Kleijer ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Amniotic Fluid ◽  
Zellweger Syndrome ◽  
Long Chain Fatty Acids ◽  
Long Chain ◽  
Chain Fatty Acids

Molecular Species of Phospholipids with Very Long Chain Fatty Acids in Skin Fibroblasts of Zellweger Syndrome

Lipids ◽  
2013 ◽  
Vol 48 (12) ◽  
pp. 1253-1267 ◽  
Author(s):  
Kotaro Hama ◽  
Toru Nagai ◽  
Chiho Nishizawa ◽  
Kazutaka Ikeda ◽  
Masashi Morita ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Molecular Species ◽  
Zellweger Syndrome ◽  
Skin Fibroblasts ◽  
Long Chain Fatty Acids ◽  
Long Chain ◽  
Chain Fatty Acids

scholarly journals Structure and lipid distribution of polyenoic very-long-chain fatty acids in the brain of peroxisome-deficient patients (Zellweger syndrome)

1987 ◽  
Vol 248 (1) ◽  
pp. 61-67 ◽  
Author(s):  
P Sharp ◽  
A Poulos ◽  
A Fellenberg ◽  
D Johnson
Keyword(s):  
Fatty Acids ◽  
Neutral Lipids ◽  
Zellweger Syndrome ◽  
Carbon Chain ◽  
Chain Elongation ◽  
Normal Brain ◽  
Long Chain Fatty Acids ◽  
Beta Oxidation ◽  
Long Chain ◽  
Chain Fatty Acids

The polyenoic fatty acids with carbon chain lengths from 26 to 38 (very-long-chain fatty acids, VLCFA) previously detected in abnormal amounts in Zellweger syndrome brain have been shown to be n-6 derivatives and therefore probably derived by chain elongation of shorter-chain n-6 fatty acids such as linoleic acid and arachidonic acid. Polyenoic VLCFA are also present in Zellweger syndrome liver, but this tissue differs significantly from brain in that the saturated and mono-unsaturated derivatives are the major VLCFA. Zellweger syndrome brain polyenoic VLCFA are present in the neutral lipids predominantly in cholesterol esters, with smaller amounts in the non-esterified fatty acid and triacylglycerol fractions. These fatty acids are barely detectable in any of the major phospholipids, but are present in significant amounts in an unidentified minor phospholipid. The polyenoic VLCFA composition of this lipid differs markedly from that observed for all other lipids, as it contains high proportions of pentaenoic and hexaenoic fatty acids with 34, 36 and 38 carbon atoms. A polar lipid with the chromatographic properties in normal brain contains similar fatty acids. It is postulated that the polyenoic VLCFA may play an important role in normal brain and accumulate in Zellweger syndrome brain because of a deficiency in the peroxisomal beta-oxidation pathway, although a possible peroxisomal role in the control of carbon-chain elongation cannot be discounted.

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
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