Systemic carnitine deficiency

Common Name(s)

Systemic carnitine deficiency, Primary carnitine deficiency, Carnitine Transport Defect, Carnitine Transporter Deficiency

Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Systemic carnitine deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Systemic carnitine deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.
 

Author(s): Jia-Woei Hou

Journal: Chang Gung Med J. 2002 Dec;25(12):832-7.

 

Carnitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis, ...

Last Updated: 14 Mar 2003

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Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
 

Author(s): A Koizumi, J Nozaki, T Ohura, T Kayo, Y Wada, J Nezu, R Ohashi, I Tamai, Y Shoji, G Takada, S Kibira, T Matsuishi, A Tsuji

Journal: Hum. Mol. Genet.. 1999 Nov;8(12):2247-54.

 

Serum free-carnitine levels were determined in 973 unrelated white collar workers in Akita, Japan. Fourteen of these participants consistently had serum free-carnitine levels below the fifth percentile (28 microM for females and 38 microM for males). The OCTN2 (organic cation transporter) ...

Last Updated: 14 Dec 1999

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Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.
 

Author(s): Y Shoji, A Koizumi, T Kayo, T Ohata, T Takahashi, K Harada, G Takada

Journal: Am. J. Hum. Genet.. 1998 Jul;63(1):101-8.

 

Primary systemic carnitine deficiency (SCD) is a rare hereditary disorder transmitted by an autosomal recessive mode of inheritance. The disorder includes cardiomyopathy, muscle weakness, hypoketotic coma with hypoglycemia, and hyperammonemia. In this study, we conducted a linkage ...

Last Updated: 13 Aug 1998

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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 "Systemic carnitine deficiency" returned 1 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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Symptoms, Diagnosis, and Treatment

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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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