Carnitine Palmitoyl Transferase 2 Deficiency

Common Name(s)

Carnitine Palmitoyl Transferase 2 Deficiency, Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine palmitoyltransferase type II deficiency (CPT-II) is a rare genetic condition. CPT-II results from a mutation (error) in the CPT2 gene. People with CPT-II cannot use certain fats for energy. Normally, fats are broken down by enzymes (special proteins) into fatty acids. Fatty acids must be taken into the mitochondria of the cell to make energy. In order to be moved, long chain fatty acids must have carnitine attached to them. Once inside the carnitine needs to be taken off by the enzyme carnitine palmitoyltransferase II. If there is not enough of this enzyme, the long chain fatty acids can’t be used to make energy. Long chain fatty acids are an important energy source for the liver and other tissues especially during fasting (such as sleep). In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles.

There are 3 different types of CPT-II: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The myopathic or classic form is the most common and symptoms usually begin in adulthood. Please view the separate entries of each form for specific symptoms Treatment for CPT-II includes a special diet. The supplement medium chain triglyceride (MCT) oil may also be recommended. MCT oil contains fats that can be broken down by individuals with CACT to produce energy.

CPT-II is autosomal recessive. Early treatment is very important. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test.Talk with your doctor to about the most current treatment options. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnitine Palmitoyl Transferase 2 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: 28 Jul 2015

View Details
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

View Details
Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 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.

Last Updated: 28 Jul 2015

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 "Carnitine Palmitoyl Transferase 2 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: 28 Jul 2015

View Details
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
Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 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

 
 
 
 
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 "Carnitine Palmitoyl Transferase 2 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 "Carnitine Palmitoyl Transferase 2 Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Labour management of a woman with carnitine palmitoyl transferase type 2 deficiency.
 

Author(s): P M Slater, R Grivell, A M Cyna

Journal: Anaesth Intensive Care. 2009 Mar;37(2):305-8.

 

Carnitine palmitoyl transferase (CPT) type 2 deficiency is a disorder of mitochondrial fatty acid oxidation. In situations where energy stores are inadequate, such as may occur during labour women with CPT type 2 deficiency are at risk of rhabdomyolysis. There is limited experience ...

Last Updated: 29 Apr 2009

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 31 Aug 2017

Go to URL