A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype

2021 ◽  
Author(s):  
Akella Radha Rama Devi ◽  
Shaik Mohammad Naushad ◽  
Romit Jain ◽  
Lokesh Lingappa
Keyword(s):  
Rare Case ◽  
Fatty Acyl ◽  
Indian Infant ◽  
Coa Reductase

Long-chain-fatty-acyl-CoA reductase

1993 ◽  
pp. 219-221
Author(s):  
Dietmar Schomburg ◽  
Margit Salzmann ◽  
Dörte Stephan
Keyword(s):  
Fatty Acyl ◽  
Coa Reductase ◽  
Long Chain

Hepatic function in rats after spaceflight: effects on lipids, glycogen, and enzymes

1987 ◽  
Vol 252 (2) ◽  
pp. R222-R226 ◽  
Author(s):  
A. H. Merrill ◽  
E. Wang ◽  
D. P. Jones ◽  
J. L. Hargrove
Keyword(s):  
Specific Activity ◽  
Cytochrome B5 ◽  
Hepatic Metabolism ◽  
Microsomal Protein ◽  
Hepatic Function ◽  
Tyrosine Aminotransferase ◽  
Fatty Acyl ◽  
Blood Cholesterol ◽  
Serine Palmitoyltransferase ◽  
Coa Reductase

The inclusion of rats aboard Spacelab 3 (SL-3) allowed analyses of liver lipids, glycogen, hepatic enzymes of cholesterol, glycerolipid and sphingolipid biosynthesis, and other enzyme activities. Glycogen content was markedly elevated in livers from the flight animals compared with controls. Cholesterol was 24% (P less than 0.04) lower in livers from the experimental groups, whereas blood cholesterol was 19% higher (P less than 0.05). The activity of 3-hydroxy-3-methylglutaryl-CoA reductase, the rate-limiting enzyme of steroid biosynthesis, was 80% lower (P less than 0.01). Total phospholipids and sphingolipid levels did not differ significantly. The specific activity of fatty acyl-CoA synthetase, which is responsible for activation of fatty acids, was 37% (P less than 0.05) higher in microsomes from the rats on SL-3; however, since these animals had 25% less microsomal protein (P less than 0.02), there was no difference per gram of liver. The initial enzymes of sphingolipid and glycerolipid biosynthesis were assayed; serine palmitoyltransferase was 40% lower (P less than 0.01), and glycerol 3-phosphate acyltransferase did not differ. Hepatic cytochrome P-450 content decreased by 50% after spaceflight. Enzymes that did not differ significantly between the two groups include cytochrome b5, glutathione S-transferase, tyrosine aminotransferase, aspartate aminotransferase, and cystathionase. These findings suggest that spaceflight alters hepatic metabolism of several classes of compounds.

scholarly journals A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

2014 ◽  
Vol 95 (5) ◽  
pp. 602-610 ◽  
Author(s):  
Rebecca Buchert ◽  
Hasan Tawamie ◽  
Christopher Smith ◽  
Steffen Uebe ◽  
A. Micheil Innes ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fatty Acyl ◽  
Peroxisomal Disorder ◽  
Severe Intellectual Disability ◽  
Coa Reductase

scholarly journals 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia

2018 ◽  
Vol 138 (5) ◽  
pp. S113
Author(s):  
J.P. Sundberg ◽  
T. Shen ◽  
O. Fiehn ◽  
R.H. Rice ◽  
K.A. Silva ◽  
...  
Keyword(s):  
Sebaceous Gland ◽  
Fatty Acyl ◽  
Coa Reductase

scholarly journals Fatty Acyl-CoA Reductase 1 Deficiency

2015 ◽  
Vol 29 (1) ◽  
pp. 6 ◽  
Author(s):  
Charles N Swisher
Keyword(s):  
Fatty Acyl ◽  
Coa Reductase

Functional expression of five Arabidopsis fatty acyl-CoA reductase genes in Escherichia coli

2009 ◽  
Vol 166 (8) ◽  
pp. 787-796 ◽  
Author(s):  
Thuy T.P. Doan ◽  
Anders S. Carlsson ◽  
Mats Hamberg ◽  
Leif Bülow ◽  
Sten Stymne ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Functional Expression ◽  
Fatty Acyl ◽  
Coa Reductase
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