Fatty Oxidation Disorders

Common Name(s)

Fatty Oxidation Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fatty Oxidation Disorders" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 29 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fatty Oxidation Disorders" for support, advocacy or research.

FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 29 Apr 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fatty Oxidation Disorders" returned 22 free, full-text research articles on human participants. First 3 results:

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial.
 

Author(s): Mette Cathrine ├śrngreen, Karen Lindhardt Madsen, Nicolai Preisler, Grete Andersen, John Vissing, Pascal Lafor├¬t

Journal: Neurology. 2014 Feb;82(7):607-13.

 

To assess whether bezafibrate increases fatty acid oxidation (FAO) and lowers heart rate (HR) during exercise in patients with carnitine palmitoyltransferase (CPT) II and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies.

Last Updated: 18 Feb 2014

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The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
 

Author(s): Uzochi Chimdinma Ndukwe Erlingsson, Francesco Iacobazzi, Aiping Liu, Orly Ardon, Marzia Pasquali, Nicola Longo

Journal: Biochem. Biophys. Res. Commun.. 2013 Aug;437(4):637-41.

 

Disorders of the carnitine cycle and of the beta oxidation spiral impair the ability to obtain energy from fats at time of fasting and stress. This can result in hypoketotic hypoglycemia, cardiomyopathy, cardiac arrhythmia and other chronic medical problems. The in vitro study of ...

Last Updated: 12 Aug 2013

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Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
 

Author(s): Susan E Waisbren, Yuval Landau, Jenna Wilson, Jerry Vockley

Journal: Dev Disabil Res Rev. 2013 Jun;17(3):260-8.

 

Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients ...

Last Updated: 26 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fatty Oxidation Disorders" returned 3 free, full-text review articles on human participants. First 3 results:

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.
 

Author(s): Ute Spiekerkoetter, Philip A Wood

Journal: J. Inherit. Metab. Dis.. 2010 Oct;33(5):539-46.

 

Mouse models have been designed for a number of fatty acid oxidation defects. Studies in these mouse models have demonstrated that different pathogenetic mechanisms play a role in the pathophysiology of defects of fatty acid oxidation. Supplementation with L-carnitine does not prevent ...

Last Updated: 29 Sep 2010

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
 

Author(s): Prem S Shekhawat, Dietrich Matern, Arnold W Strauss

Journal: Pediatr. Res.. 2005 May;57(5 Pt 2):78R-86R.

 

Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, ...

Last Updated: 29 Apr 2005

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Mouse models for disorders of mitochondrial fatty acid beta-oxidation.
 

Author(s): A Michele Schuler, Philip A Wood

Journal: ILAR J. 2002 ;43(2):57-65.

 

Mitochondrial beta-oxidation of fatty acids is vital for energy production in periods of fasting and other metabolic stress. Human patients have been identified with inherited disorders of mitochondrial beta-oxidation of fatty acids with enzyme deficiencies identified at many of the ...

Last Updated: 27 Mar 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
 

Status: Recruiting

Condition Summary: Long-chain Fatty Acid Oxidation Disorders (LC-FAOD); Carnitine Palmitoyltransferase (CPT II) Deficiency; Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency; Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency; Trifunctional Protein (TFP) Deficiency

 

Last Updated: 18 Jul 2014

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Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder
 

Status: Recruiting

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase 2 (CPT2) Deficiency; Mitochondrial Trifunctional Protein (TFP) Deficiency; Long-chain 3 hydroxyacylCoA Dehydrogenase (LCHAD) Deficiency

 

Last Updated: 17 Jun 2014

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Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.
 

Status: Not yet recruiting

Condition Summary: Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency; Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency; Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency; Trifunctional Protein (TFP) Deficiency; Carnitine-acylcarnitine Translocase (CACT) Deficiency

 

Last Updated: 7 Aug 2014

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