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.

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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 Deficiency" for support, advocacy or research.

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

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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 78 free, full-text research articles on human participants. First 3 results:

Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation.
 

Author(s): Richard D Semba, Indi Trehan, Ximin Li, Ruin Moaddel, M Isabel Ordiz, Kenneth M Maleta, Klaus Kraemer, Michelle Shardell, Luigi Ferrucci, Mark Manary

Journal: EBioMedicine. 2017 Mar;17():57-66.

 

Environmental enteric dysfunction (EED), a condition characterized by small intestine inflammation and abnormal gut permeability, is widespread in children in developing countries and a major cause of growth failure. The pathophysiology of EED remains poorly understood.

Last Updated: 26 Jan 2017

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First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
 

Author(s): Atsushi Shima, Tetsuhiko Yasuno, Kenji Yamada, Miyoko Yamaguchi, Ryuichi Kohno, Seiji Yamaguchi, Hiroshi Kido, Hidetoshi Fukuda

Journal: Intern. Med.. ;55(18):2659-61.

 

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of CPT II deficiency is relatively benign and difficult to diagnose. The point mutation S113L in CPT2 is very common in Caucasian ...

Last Updated: 16 Sep 2016

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Carnitine and/or Acetylcarnitine Deficiency as a Cause of Higher Levels of Ammonia.
 

Author(s): Cecilia Maldonado, Natalia Guevara, Cecilia Queijo, Raquel González, Pietro Fagiolino, Marta Vázquez

Journal: Biomed Res Int. 2016 ;2016():2920108.

 

Blood carnitine and/or acetylcarnitine deficiencies are postulated in the literature as possible causes of higher ammonia levels. The aim of this study was to investigate if the use of valproic acid, the age of the patients, or certain central nervous system pathologies can cause ...

Last Updated: 21 Mar 2016

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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:

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
 

Author(s): Diana Lehmann, Leila Motlagh, Dina Robaa, Stephan Zierz

Journal:

 

CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle weakness and lipid accumulation ...

Last Updated: 5 Jan 2017

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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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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

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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: 21 Sep 2015

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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

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