Infantile carnitine palmitoyltransferase II deficiency

Common Name(s)

Infantile carnitine palmitoyltransferase II deficiency

Infantile carnitine palmitoyltransferase II deficiency (infantile CPTII) is a rare genetic condition. It is a fatty acid oxidation disorder, which means the body can’t use fats to make energy. The heart and muscles rely on fats for energy, and during times of fasting (like when we sleep), the liver and many other organs also use fats. Symptoms of the infantile form begin during infancy or early childhood and include seizures, an enlarged liver (hepatomegaly), an enlarged and weakened heart (cardiomyopathy), and an irregular heartbeat (arrhythmia). If untreated, the disease can progress to the point of liver failure, damage to the brain and nerves, or coma.

CPTII is caused by a mutation (change) to the CPT2 gene. This gene provides the code to make the protein, carnitine palmitoyltransferase II (CPII). Normally, fats are broken down in our cells into their smaller parts or fatty acids. Fatty acids are then moved into the mitochondria (the part of cell where energy is made) using carnitine. Once inside the mitochondria, CPII takes the carnitine off, so the fatty acids can then be used for energy. If there is a mutation to the CPT2 gene, there is not enough CPII made to remove the carnitine. CPTII is an autosomal recessive disease, meaning both copies of the CPTII gene must have the mutation or change.

Treatments includes a special diet and supplements and must be lifelong. Even with treatment, some children will develop kidney, liver or heart problems. Many babies are screened for CPTII so that treatment can begin early, but newborn screening conditions vary by state. For more information, visit Baby’s First Test. Research is ongoing, so talk with your baby’s doctor about the most current treatment options. Genetic counselors and support groups are also good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile 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 "Infantile 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

Not finding the support you need? Show 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 "Infantile carnitine palmitoyltransferase II deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
 

Author(s): F Demaugre, J P Bonnefont, M Colonna, C Cepanec, J P Leroux, J M Saudubray

Journal: J. Clin. Invest.. 1991 Mar;87(3):859-64.

 

Reported cases of carnitine palmitoyltransferase II (CPT II) deficiency are characterized only by a muscular symptomatology in young adults although the defect is expressed in extra-muscular tissues as well as in skeletal muscle. We describe here a CPT II deficiency associating hypoketotic ...

Last Updated: 10 Apr 1991

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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 "Infantile 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.