Short chain acyl CoA dehydrogenase deficiency

Common Name(s)

Short chain acyl CoA dehydrogenase deficiency, SCAD Deficiency

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a rare genetic condition. SCAD results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with SCAD have problems with breaking down certain fats properly. SCAD occurs when the body either does not make enough or makes non-working SCAD enzyme called short-chain acyl-CoA dehydrogenase. Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. In this case, the job of the SCAD enzyme is to break down the very short-chain fatty acids, which are parts of the fat found in our food. A person with SCAD 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 short-chain fatty acids, which can be harmful to the body.

Each person with SCAD has a different experience and may never show any signs or symptoms. If the person shows signs, the symptoms of this condition may include irritability, sleeping longer or more than usual, vomiting, poor appetite, hyperactivity, fever, diarrhea, low blood sugar (hypoglycemia), trouble breathing, developmental delays, weak muscle tone (hypotonia), small head size, and behavior changes. If untreated, individuals are at risk for developing learning delays, seizures, muscle weakness, or liver trouble. 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 SCAD 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. SCAD is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also 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 "Short 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

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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

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Short 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

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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

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General Support Organizations

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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

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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 "Short chain acyl CoA dehydrogenase deficiency" returned 5 free, full-text research articles on human participants. First 3 results:

Last Updated: 3 Sep 2012

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Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
 

Author(s): Zarazuela Zolkipli, Christina B Pedersen, Anne-Marie Lamhonwah, Niels Gregersen, Ingrid Tein

Journal:

 

To elucidate the pathophysiology of SCAD deficient patients who have a unique neurological phenotype, among fatty acid oxidation disorders, with early developmental delay, CNS malformations, intractable seizures, myopathy and clinical signs suggesting oxidative stress.

Last Updated: 12 Apr 2011

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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
 

Author(s): S E Waisbren, H L Levy, M Noble, D Matern, N Gregersen, K Pasley, D Marsden

Journal: Mol. Genet. Metab.. ;95(1-2):39-45.

 

The medical and neurodevelopmental characteristics of 14 children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) are described. Eight were detected as neonates by newborn screening. Three children diagnosed on the basis of clinical symptoms had normal newborn screening ...

Last Updated: 22 Sep 2008

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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 "Short chain acyl CoA dehydrogenase deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
 

Author(s): Bianca T van Maldegem, Ronald J A Wanders, Frits A Wijburg

Journal: J. Inherit. Metab. Dis.. 2010 Oct;33(5):507-11.

 

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis ...

Last Updated: 29 Sep 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.