Myopathic carnitine palmitoyltransferase II deficiency

Common Name(s)

Myopathic carnitine palmitoyltransferase II deficiency, Late-onset carnitine palmitoyltransferase II deficiency

Myopathic carnitine palmitoyltransferase II deficiency (myopathic CPTII) is a fatty acid oxidation disorder, which means the body cannot convert fats into useful energy. The resulting symptoms begin during childhood and include muscle pain and weakness. This is because the body begins breaking down muscle (rhabdomyolysis) in order to obtain the energy that it isn’t getting from fatty acids.

CPTII is caused by a mutation (change) to the CPT2 gene. This gene provides the body with an instruction to make a protein called carnitine palmitoyltransferase II (CPII). This protein removes a substance called carnitine from fatty acids in order to break them down and create energy. If there is a mutation to the CPT2 gene, carnitine is not removed from fatty acids and less energy is produced. People affected by myopathic CPTII produce more of the enzyme required to break down fatty acids than other forms of CPTII, so it is the least severe form. CPTII is an autosomal recessive disease, meaning that a person affected by the disease has two mutated copies of the CPT2 gene. A person with only one mutated copy of the gene is called a carrier. Any child of two carriers has a one in four chance of having the disease.

CPTII can be diagnosed before birth by testing for levels of fatty acids in the blood and measuring CPII enzyme activity. Treatments such as dietary changes and avoiding exercise have been successful in preventing the symptoms of the disease. Many babies are screened for CPTII so that treatment can begin early, but the conditions included in newborn screening vary by state. For more information, visit Baby’s First Test.Talk with your doctor to determine which treatment options are best for your child. Genetic counselors and 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 "Myopathic carnitine palmitoyltransferase II deficiency" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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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: 28 Jul 2015

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

Last Updated: 28 Jul 2015

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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 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myopathic carnitine palmitoyltransferase II deficiency" for support, advocacy or research.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

View Details
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: 28 Jul 2015

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

http://www.mitoaction.org/

Last Updated: 28 Jul 2015

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 Jul 2015

View Details

 

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 "Myopathic carnitine palmitoyltransferase II 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 "Myopathic carnitine palmitoyltransferase II deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.