Short-chain acyl CoA dehydrogenase (SCAD) deficiency

2005 ◽  
pp. 290-293
Keyword(s):  
Short Chain ◽  
Chain Acyl ◽  
Scad Deficiency

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

2008 ◽  
Vol 124 (1) ◽  
pp. 43-56 ◽  
Author(s):  
Christina B. Pedersen ◽  
Steen Kølvraa ◽  
Agnete Kølvraa ◽  
Vibeke Stenbroen ◽  
Margrethe Kjeldsen ◽  
...  
Keyword(s):  
Protein Misfolding ◽  
Cellular Level ◽  
Short Chain ◽  
Gene Variation ◽  
Chain Acyl ◽  
Scad Deficiency

M.P.4.16 Atypical clinical presentation of an infant with short chain acyl-CoA dehydrogenase (SCAD) deficiency

2007 ◽  
Vol 17 (9-10) ◽  
pp. 864
Author(s):  
P. Fequiere ◽  
B. Wong ◽  
L. Miles ◽  
N. Gregersen ◽  
L. Wong ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Short Chain ◽  
Atypical Clinical Presentation ◽  
Chain Acyl ◽  
Scad Deficiency

scholarly journals Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

2020 ◽  
Vol 9 (3) ◽  
pp. 694 ◽  
Author(s):  
Marina Brailova ◽  
Guillaume Clerfond ◽  
Romain Trésorier ◽  
Régine Minet-Quinard ◽  
Julie Durif ◽  
...  
Keyword(s):  
Cardiac Rhythm ◽  
Metabolic Diseases ◽  
Specific Treatment ◽  
Adult Patients ◽  
Short Chain ◽  
Inherited Metabolic Diseases ◽  
Mitochondrial Cytopathies ◽  
Cardiac Implantable Electronic Devices ◽  
Chain Acyl ◽  
Scad Deficiency

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010–2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6–11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich’s ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1–8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.

Short-chain acyl CoA dehydrogenase (SCAD) deficiency

2020 ◽  
pp. 317-323
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Short Chain ◽  
Chain Acyl ◽  
Scad Deficiency

scholarly journals A Single LC-MS/MS Analysis to Quantify CoA Biosynthetic Intermediates and Short-Chain Acyl CoAs

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 468
Author(s):  
Anthony E. Jones ◽  
Nataly J. Arias ◽  
Aracely Acevedo ◽  
Srinivasa T. Reddy ◽  
Ajit S. Divakaruni ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Sample Preparation ◽  
Biosynthetic Pathway ◽  
Solid Phase ◽  
High Sensitivity ◽  
Short Chain ◽  
Extraction Column ◽  
Chain Acyl ◽  
Precision And Accuracy ◽  
Mass Spectrometry Mass Spectrometry

Coenzyme A (CoA) is an essential cofactor for dozens of reactions in intermediary metabolism. Dysregulation of CoA synthesis or acyl CoA metabolism can result in metabolic or neurodegenerative disease. Although several methods use liquid chromatography coupled with mass spectrometry/mass spectrometry (LC-MS/MS) to quantify acyl CoA levels in biological samples, few allow for simultaneous measurement of intermediates in the CoA biosynthetic pathway. Here we describe a simple sample preparation and LC-MS/MS method that can measure both short-chain acyl CoAs and biosynthetic precursors of CoA. The method does not require use of a solid phase extraction column during sample preparation and exhibits high sensitivity, precision, and accuracy. It reproduces expected changes from known effectors of cellular CoA homeostasis and helps clarify the mechanism by which excess concentrations of etomoxir reduce intracellular CoA levels.

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