Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Stable Identifier
R-HSA-5619053
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Pathway
Species
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
23379544 Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

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

Clin. Genet. 2014
22952014 Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21)

Tamai, I

Biopharm Drug Dispos 2013
Participants
Participates
Disease
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)
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