Very long chain acyl-CoA dehydrogenase deficiency

Common Name(s)

Very long chain acyl-CoA dehydrogenase deficiency, VCLAD deficiency, ACADVL

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic condition. VLCAD results from a mutation or error in a person’s DNA or genes. Due to this change, people with VLCAD have problems breaking down certain fats properly. VLCAD occurs when the body either does not make enough or makes non-working enzyme called very long-chain acyl-CoA dehydrogenase. Enzymes are special proteins that help break down the food we eat into the pieces our body can use, for example for energy. In this case, the job of the VLCAD enzyme is to break down the very long-chain fatty acids, which are parts of the fat found in our food. These fatty acids are important energy sources when there are not enough sugars in the body, such as in between meals. A person with VLCAD cannot use this type of fatty acid for energy because it can't break it down. This also causes a build-up of too many unused very long-chain fatty acids, which can be harmful to the body.

Those affected by VLCAD can show symptoms any time between infancy and adulthood. Symptoms may include irritability, sleeping longer or more than usual, tiredness, vomiting, poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and behavior changes. If untreated, individuals are at risk for developing breathing problems, seizures, brain damage, and coma. Many of these complications can be prevented with early detection and lifelong management with a special diet and appropriate supplements. Many babies are screened for VLCAD at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. VLCAD is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Very long chain acyl-CoA dehydrogenase deficiency" 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

View Details
Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 2 Mar 2013

View Details
United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Very long chain acyl-CoA dehydrogenase deficiency" 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

View Details
Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 2 Mar 2013

View Details
United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

Go To URL
 
 
Top

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 "Very long chain acyl-CoA dehydrogenase deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Very long chain acyl-CoA dehydrogenase deficiency" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 2 Study of EPI-743 in Children With Pearson Syndrome
 

Status: Recruiting

Condition Summary: Pearson Syndrome

 

Last Updated: 27 Oct 2014

Go to URL
Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency, Type B; Acyl-coA Dehydrogenase, Type 9

 

Last Updated: 7 Oct 2013

Go to URL
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Fanconi Anemia; Myelodysplastic Syndromes; Nonmalignant Neoplasm; Pearson Marrow-pancreas Syndrome; Shwachman-diamond Syndrome

 

Last Updated: 1 Dec 2011

Go to URL