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.

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 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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
 
 
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 Deficiency" returned 86 free, full-text research articles on human participants. First 3 results:

Resveratrol-Induced Changes in MicroRNA Expression in Primary Human Fibroblasts Harboring Carnitine-Palmitoyl Transferase-2 Gene Mutation, Leading to Fatty Acid Oxidation Deficiency.
 

Author(s): Virginie Aires, Dominique Delmas, Fatima Djouadi, Jean Bastin, Mustapha Cherkaoui-Malki, Norbert Latruffe

Journal:

 

Carnitine palmitoyltransferase-2 () is a mitochondrial enzyme involved in long-chain fatty acid entry into mitochondria for their β-oxidation and energy production. Two phenotypes are associated with the extremely reduced activity in genetically deficient patients: neonatal lethality ...

Last Updated: 31 Dec 1969

Go To URL
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
 

Author(s): Jian-Qiang Tan, Da-Yu Chen, Zhe-Tao Li, Ti-Zhen Yan, Ji-Wei Huang, Ren Cai

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov;19(11):1150-1154.

 

To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD.

Last Updated: 31 Dec 1969

Go To URL
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
 

Author(s): Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina

Journal: Eur. J. Hum. Genet.. 2017 06;25(6):783-787.

 

Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection ...

Last Updated: 31 Dec 1969

Go To URL

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 7 free, full-text review articles on human participants. First 3 results:

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
 

Author(s): Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang

Journal: Medicine (Baltimore). 2017 Nov;96(45):e8549.

 

Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. ...

Last Updated: 31 Dec 1969

Go To URL
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
 

Author(s): Arthur L Beaudet

Journal: Bioessays. 2017 08;39(8):.

 

Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early ...

Last Updated: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
 
 
Top

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: 10 Jan 2018

Go to URL
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