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Primary/Systemic Carnitine Deficiency
SLC22A5 gene
Primary/systemic carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Patients may present as infants with nonketotic hypoglycemia, hypotonia, Reye syndrome or sudden infant death or later in life with cardiomyopathy (characteristically dilated) or muscle weakness. Different types of presentation have been observed within an individual family. Diet may contribute to the pathogenesis of this disorder. Delayed diagnosis has been reported as common. PCD can be identified by MS/MS based newborn screening and positive newborn screening results have also occurred in infants of mothers affected with PCD even though the mother has had mild or no symptoms. Patients respond promptly to carnitine supplementation, with correction of metabolic abnormalities, cardiomyopathy, and skeletal myopathy reported. However, developmental delay due to hypoglycemia that occurred prior to treatment usually persists. In five separate studies each including between 4 and 9 patients with PCD diagnosed based on reduced carnitine transport in fibroblasts, all mutations were identified on the SLC22A5 alleles.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the SLC22A5 gene is analyzed. If sequencing identifies a mutation on only one allele of the SLC22A5 gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. Carrier testing and prenatal diagnosis is available once the mutations in the family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2, CDSP, SCD CARNITINE DEFICIENCY, DEFECT IN RENAL REABSORPTION OF CARNITINE, CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF CARNITINE UPTAKE DEFECT; CUD, long chain fatty acids, maternal carnitine deficiency, carnitine uptake defect, systemic carnitine deficiency, primary carnitine deficiency
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