Renal carnitine transport defect

Common Name(s)

Renal carnitine transport defect, Carnitine uptake defect

Carnitine uptake defect (CUD) is an inherited condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. If untreated, CUD can cause brain damage or death. However, with early detection and treatment, individuals with CUD can often lead healthy lives. The first signs of carnitine uptake defect (CUD) usually begin between birth and 3 years of age. These signs vary from child to child but may include tiredness, irritability, vomiting, diarrhea, fever, confusion, and breathing troubles. Prescription L-carnitine supplements is the main treatment for carnitine uptake defect (CUD), and individuals with CUD will probably also need to follow a restricted diet in order to avoid eating fats that their body cannot break down. A nutritionist or a dietician can help you plan the diet for your baby. Many babies are screened to see if they may be affected by CUD at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby's First Test.

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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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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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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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