Systemic Primary Carnitine Deficiency

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Systemic Primary Carnitine Deficiency is not the name you expected.

Disorder Subdivisions

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General Discussion


Systemic primary carnitine deficiency (CDSP) is a rare metabolic disorder in which the body cannot properly process fats into energy. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria). A deficiency of carnitine results in accumulation of fats in the liver, muscle, and heart. Symptoms of CDSP in infants can include poor feeding, tiredness, irritability and low blood sugar (hypoglycemia) but CDSP can also present later in childhood with heart and muscle abnormalities. Some people with CDSP are diagnosed as adults and have mild or no symptoms. CDSP is caused by mutations in the SLC22A5 gene and inherited as an autosomal recessive genetic condition.


CDSP is treatable by the daily use of L-carnitine supplements. Without early detection and treatment, an affected child may experience low blood sugar (hypoglycdemia), seizures, heart muscle weakness (cardiomyopathy) that can be life-threatening. Newborn screening is available for CDSP.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

FOD (Fatty Oxidation Disorders) Family Support Group

PO Box 54
Okemos, MI 48864
Tel: (517)381-1940
Fax: (866)290-5206

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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Last Updated:  11/24/2015
Copyright  2015 National Organization for Rare Disorders, Inc.