Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Stable Identifier
Homo sapiens
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The human SLC22A5,15 and 16 genes encode for sodium-dependent, high affinity carnitine cotransporters which maintain systemic and tissue concentrations of carnitine. Carnitine is essential for beta-oxidation of long-chain fatty acids to produce ATP. SLC22A5 encodes the organic cation/carnitine transporter 2 (OCTN2). SLC22A5 is strongly expressed in the kidney, skeletal muscle, heart and placenta. Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP; MIM:212140), an autosomal recessive disorder of fatty-acid oxidation caused by defective carnitine transport resulting in cardiac, skeletal, or metabolic symptoms. If diagnosed early, all clinical symptoms can be completely reversed with a carnitine supplement. However, if left untreated, patients will develop lethal heart failure (Shibbani et al. 2014, Tamai 2013).

Literature References
PubMed ID Title Journal Year
22952014 Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21)

Tamai, I

Biopharm Drug Dispos 2013
23379544 Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Shibbani, K, Fahed, AC, Al-Shaar, L, Arabi, M, Nemer, G, Bitar, F, Majdalani, M

Clin. Genet. 2014
Name Identifier Synonyms
systemic primary carnitine deficiency disease DOID:14365 carnitine uptake defect, carnitine transporter deficiency, primary carnitine deficiency, deficiency of plasma-membrane carnitine transporter, renal carnitine transport defect (disorder)
Cross References
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