scholarly journals Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts

2005 ◽  
Vol 35 (1) ◽  
pp. 38-46 ◽  
Author(s):  
M. C. Hunt ◽  
J. Ruiter ◽  
P. Mooyer ◽  
C. W. T. van Roermond ◽  
R. Ofman ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Human Skin ◽  
Skin Fibroblasts ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Human Skin Fibroblasts

scholarly journals The Regulation of Fatty Acid Biosynthesis in Human Skin Fibroblasts

1973 ◽  
Vol 248 (4) ◽  
pp. 1268-1276 ◽  
Author(s):  
Richard A. Jacobs ◽  
William S. Sly ◽  
Philip W. Majerus
Keyword(s):  
Fatty Acid ◽  
Human Skin ◽  
Fatty Acid Biosynthesis ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Acid Biosynthesis

scholarly journals Identification of a fatty acid Δ6-desaturase deficiency in human skin fibroblasts

2001 ◽  
Vol 42 (4) ◽  
pp. 501-508
Author(s):  
Deborah E. Williard ◽  
Joseph O. Nwankwo ◽  
Terry L. Kaduce ◽  
Shawn D. Harmon ◽  
Mira Irons ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Human Skin ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Δ6 Desaturase

A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women

1999 ◽  
Vol 54 (11) ◽  
pp. 679
Author(s):  
Jamal A. Ibdah ◽  
Michael J. Bennett ◽  
Piero Rinaldo ◽  
Yiwen Zhao ◽  
Beverly Gibson ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Liver Disease ◽  
Pregnant Women ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder

Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement

2003 ◽  
Vol 142 (6) ◽  
pp. 684-689 ◽  
Author(s):  
Margarethe E.J. den Boer ◽  
Carlo Dionisi-Vici ◽  
Anupam Chakrapani ◽  
Anders O.J. van Thuijl ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Protein Deficiency ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Neurologic Involvement ◽  
Mitochondrial Trifunctional Protein

3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase

1993 ◽  
Vol 39 (5) ◽  
pp. 897-901 ◽  
Author(s):  
M J Bennett ◽  
W G Sherwood
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Mass Spectra ◽  
Gas Chromatography Mass Spectrometry ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Urinary Organic Acids ◽  
First Time ◽  
Long Chain

Abstract Three patients presented with evidence of a fatty acid oxidation disorder. Analysis of urinary organic acids by gas chromatography/mass spectrometry demonstrated the presence of medium-chain (C6-C12) dicarboxylic, 3-hydroxydicarboxylic, and 3-ketodicarboxylic acids in all three urines. 3-Ketodicarboxylic aciduria is reported for the first time here, as are the mass spectra for 3-ketosuberic, 3-ketosebacic, and 3-ketododecanedioic acids and the oximated spectrum for 3-ketoadipic acid. The presence of 3-ketodicarboxylic acids suggests a defect at the level of a long-chain 3-ketoacyl-CoA thiolase, an enzyme for which a deficiency state has not previously been described. Our patients may represent the first cases of a long-chain thiolase defect.

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