Renal carnitine transport defect

Common Name(s)

Renal carnitine transport defect

Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis ({20:Lamhonwah et al., 2002}). See also myopathic carnitine deficiency ({212160}), which is restricted to skeletal muscle.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Renal carnitine transport defect" for support, advocacy or research.

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Scientific Literature

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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: 10 Sep 2013

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