Carnitine Deficiency

Common Name(s)

Carnitine Deficiency

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnitine 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnitine 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

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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.

http://www.umdf.org

Last Updated: 28 Feb 2013

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General Support Organizations

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General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

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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 Deficiency" returned 68 free, full-text research articles on human participants. First 3 results:

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
 

Author(s): Maria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, Elisa Leão-Teles, Esmeralda Martins, Helena Santos, Maria Amor Bueno, Carmen Delgado-Pecellín, Daisy E Castiñeiras, José A Cocho, Judit García-Villoria, Antonia Ribes, José M Fraga, Hugo Rocha

Journal:

 

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but ...

Last Updated: 22 Jul 2013

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Cardiac magnetic resonance findings in a case of carnitine deficiency.
 

Author(s): Rebecca Rudominer Ascunce, Ambika C Nayar, Colin K L Phoon, Monvadi B Srichai

Journal: Tex Heart Inst J. 2013 ;40(1):104-5.

 

Last Updated: 7 Mar 2013

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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 Deficiency" returned 4 free, full-text review articles on human participants. First 3 results:

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
 

Author(s): Pilar L Magoulas, Ayman W El-Hattab

Journal:

 

Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of ...

Last Updated: 13 Nov 2012

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Primary carnitine deficiency in the Chinese.
 

Author(s): N L Tang, J Hui, L K Law, K F To, K L Cheung, H N Magnus, P M Yuen, T F Fok

Journal: Chin. Med. J.. 2000 Apr;113(4):376-80.

 

Last Updated: 1 Jan 2002

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Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation.
 

Author(s): J P Infante, V A Huszagh

Journal: FEBS Lett.. 2000 Feb;468(1):1-5.

 

A critical analysis of the literature of mitochondrial disorders reveals that genetic diseases of oxidative phosphorylation are often associated with impaired beta-oxidation, and vice versa, and preferentially affect brain, retina, heart and skeletal muscle, tissues which depend on ...

Last Updated: 10 Apr 2000

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Prematurity; Neurodevelopmental Disorder; Carnitine Deficiency

 

Last Updated: 31 Jan 2013

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Identification of Carnitine-Responsive Cardiomyopathy
 

Status: Not yet recruiting

Condition Summary: Carnitine Deficiency

 

Last Updated: 17 Jul 2013

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Last Updated: 29 Jul 2014

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