Carnitine Palmitoyl Transferase 1 Deficiency

Common Name(s)

Carnitine Palmitoyl Transferase 1 Deficiency, Carnitine Palmitoyltransferase Deficiency Type 1

Carnitine palmitoyltransferase I deficiency (CPT-IA) is a rare genetic condition. CPT-1A results from a mutation (error) in the CPT1A gene. People with CPT-1A cannot use certain fats into energy. 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. CPT-IA occurs when the body does not make enough working carnitine palmitoyltransferase 1A. This enzyme attaches long chain fatty acids to carnitine so they can be moved into the mitochondria. 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. CPT-1A may be mistaken as Reye syndrome.

Signs of CPT-1A begin to show between 8 and 18 months. Symptoms include sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, trouble breathing, or seizures. Without treatment, learning disabilities, developmental delays, and liver, heart and kidney problems may occur. Treatment includes a special diet. The supplement medium chain triglyceride (MCT) oil may be recommended. MCT oil contains fats that can be broken down by individuals with CACT to produce energy.

CPT-1A is autosomal recessive. With early treatment, children with CPT-1A amy have healthy growth and development. Many babies are screened at birth so treatment begins early, but the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor 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 1 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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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: 8 Mar 2010

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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 "Carnitine Palmitoyl Transferase 1 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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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: 8 Mar 2010

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 Feb 2013

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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 Palmitoyl Transferase 1 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 1 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

Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency, Type B; Acyl-coA Dehydrogenase, Type 9

 

Last Updated: 7 Oct 2013

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Bezafibrate Trial in CPT2 Deficiency
 

Status: Recruiting

Condition Summary: Carnitine Palmitoyl Transferase 2 Deficiency

 

Last Updated: 6 Apr 2007

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