Carnitine uptake defect

Common Name(s)

Carnitine uptake defect, Renal carnitine transport defect, Primary carnitine deficiency

Carnitine uptake defect (CUD) is a rare genetic condition. CUD results from a mutation (error) in the SLC22A5 gene which codes for the protein OCTN2. Due to this mistake, people with CUD cannot use certain fats to make 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. Long chain fatty acids need to be attached to carnitine so they can be moved into the mitochondria. In CUD, there is not enough OCTN2, the protein which brings carnitine into our cells. Without carnitine in the cells, the long chain fatty acids cannot be moved. Fatty acids are the main energy for the heart and muscles and are an important during fasting (like sleeping) for the liver and other tissues. In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles. CUD may be mistaken as Reye syndrome.

A child with CUD may show symptoms between birth and 3 years of age. Vomiting, increased tiredness, behavior changes, low blood sugar, muscle weakness, and heart or liver problems may occur. Fortunately, many symptoms may be avoided with early treatment. Treatment involves L-carnitine supplement to help break down fats. Additionally, your child’s doctor may recommend a specific diet to avoid eating certain fats.

CUD is autosomal recessive, meaning two copies of the changed gene must be present. Early treatment is 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 about the most current treatment options. Support groups also 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 uptake defect" 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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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

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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 uptake defect" 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

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

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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 uptake defect" returned 1 free, full-text research articles on human participants. First 3 results:

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
 

Author(s): Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien

Journal:

 

Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline ...

Last Updated: 19 Feb 2013

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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 "Carnitine uptake defect" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Identification of Carnitine-Responsive Cardiomyopathy
 

Status: Not yet recruiting

Condition Summary: Carnitine Deficiency

 

Last Updated: 17 Jul 2013

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Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
 

Status: Recruiting

Condition Summary: Prematurity; Neurodevelopmental Disorder; Carnitine Deficiency

 

Last Updated: 19 Feb 2015

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Last Updated: 26 Aug 2015

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