Carnitine palmitoyltransferase II deficiency, lethal neonatal

Common Name(s)

Carnitine palmitoyltransferase II deficiency, lethal neonatal

Carnitine palmitoyltransferase II deficiency (CPTII), lethal neonatal form 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 this disorder begin within a few hours to a few days after birth and include seizures, trouble breathing, a weakened and enlarged heart (cardiomyopathy) and an irregular heartbeat (arrhythmia). The disease quickly progresses and can result in kidney, liver, or respiratory (breathing) failure.

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. The lethal neonatal form is so severe because very little (if any) working CPII is made, so very little energy can be made from fats. CPTII is an autosomal recessive disease, meaning both copies of the CPTII gene must have the mutation or change.

At present there is no cure for the neonatal lethal form. Many babies are screened for CPTII, but the 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 "Carnitine palmitoyltransferase II deficiency, lethal neonatal" 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: 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 "Carnitine palmitoyltransferase II deficiency, lethal neonatal" 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: 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 "Carnitine palmitoyltransferase II deficiency, lethal neonatal" 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 "Carnitine palmitoyltransferase II deficiency, lethal neonatal" 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.