Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy

2021 ◽  
Author(s):  
Kathryn C. Chatfield ◽  
Genevieve C. Sparagna ◽  
Kalyn S. Specht ◽  
Luke A. Whitcomb ◽  
Asma K. Omar ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Complex I ◽  
Chain Fatty Acid ◽  
Barth Syndrome ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Pediatric Cardiomyopathy ◽  
Respiratory Complex I ◽  
Long Chain

scholarly journals Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

2016 ◽  
Vol 119 (3) ◽  
pp. 223-231 ◽  
Author(s):  
J. Vockley ◽  
J. Charrow ◽  
J. Ganesh ◽  
M. Eswara ◽  
G.A. Diaz ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Fatty Acid Oxidation Disorders ◽  
Pediatric Cardiomyopathy ◽  
Long Chain

scholarly journals UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

2017 ◽  
Vol 120 (4) ◽  
pp. 370-377 ◽  
Author(s):  
J. Vockley ◽  
B. Burton ◽  
G.T. Berry ◽  
N. Longo ◽  
J. Phillips ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Safety And Efficacy ◽  
Fatty Acid Oxidation Disorders ◽  
Long Chain

scholarly journals CPT1a-Dependent Long-Chain Fatty Acid Oxidation Contributes to Maintaining Glucagon Secretion from Pancreatic Islets

Cell Reports ◽  
2018 ◽  
Vol 23 (11) ◽  
pp. 3300-3311 ◽  
Author(s):  
Linford J.B. Briant ◽  
Michael S. Dodd ◽  
Margarita V. Chibalina ◽  
Nils J.G. Rorsman ◽  
Paul R.V. Johnson ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Pancreatic Islets ◽  
Fatty Acid Oxidation ◽  
Glucagon Secretion ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Long Chain

Chronic inhibition of fatty acid oxidation: new model of diastolic dysfunction

1990 ◽  
Vol 258 (1) ◽  
pp. H51-H56 ◽  
Author(s):  
S. E. Litwin ◽  
T. E. Raya ◽  
R. G. Gay ◽  
J. B. Bedotto ◽  
J. J. Bahl ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Weight Ratio ◽  
Left Ventricular ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Ventricular Relaxation ◽  
Left Ventricular Chamber ◽  
Long Chain

This study was designed to determine the changes in the heart that result from inhibition of long-chain fatty acid oxidation with 2-tetradecylglycidic acid (TDGA). Male Sprague-Dawley rats (n = 64) were treated with TDGA (20 mg.kg-1.day-1) or a comparable volume of vehicle by gavage feeding for 7 or 21 days. In conscious rats TDGA produced no changes in heart rate, left ventricular systolic or end-diastolic pressures, left ventricular pressure development (dP/dt), or the time constant of left ventricular relaxation. Left ventricular developed pressure was not changed at 21 days. TDGA increased left ventricular weight, left ventricular weight-to-body weight ratio, and total heart weight-to-body weight ratio. Left ventricular endocardial and epicardial myocyte volumes were increased by 53 and 65%, respectively. Myocardial triglyceride content was increased threefold. Left ventricular chamber stiffness constants between end-diastolic pressures of 0 and 30 mmHg were increased, and left ventricular end-diastolic volumes at operating end-diastolic pressures were decreased at both 7 and 21 days. The myocardial stiffness constant was also increased at 7 and 21 days. Thus inhibition of long-chain fatty acid oxidation with TDGA increased left ventricular mass and altered left ventricular chamber and muscle stiffness without changing left ventricular relaxation or systolic function. We conclude that inhibition of long-chain fatty acid oxidation produced an unusual model of left ventricular hypertrophy and diastolic dysfunction characterized by abnormalities of passive-elastic properties but preserved relaxation.

scholarly journals Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

JIMD Reports ◽  
2020 ◽  
Vol 55 (1) ◽  
pp. 44-50
Author(s):  
Amy Kritzer ◽  
Stacey Tarrant ◽  
Karen Sussman‐Karten ◽  
Kimberly Barbas
Keyword(s):  
Fatty Acid ◽  
Breast Milk ◽  
Fatty Acid Oxidation ◽  
Therapeutic Intervention ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Long Chain Fatty Acid ◽  
Long Chain ◽  
Novel Therapeutic

scholarly journals PRO79 QUALITATIVE EXPLORATION OF THE PATIENT EXPERIENCE OF LONG-CHAIN FATTY ACID OXIDATION DISORDERS

2020 ◽  
Vol 23 ◽  
pp. S342-S343
Author(s):  
R. Hall ◽  
E. Kruger ◽  
A. Bowden ◽  
T. Cimms ◽  
A. Skrinar ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Patient Experience ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Fatty Acid Oxidation Disorders ◽  
Qualitative Exploration ◽  
Long Chain

Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects

2006 ◽  
Vol 367 (1-2) ◽  
pp. 185-188 ◽  
Author(s):  
Franklin Fuda ◽  
Srinivas B. Narayan ◽  
Robert H. Squires ◽  
Michael J. Bennett
Keyword(s):  
Fatty Acid ◽  
Liver Disease ◽  
Fatty Acid Oxidation ◽  
Chain Fatty Acid ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Pediatric Liver ◽  
Pediatric Liver Disease ◽  
Long Chain
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