SLC22A5
It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine.[5] Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.Organic cations transported by this protein include tetraethylammonium (TEA) without involvement of sodium.[6] Patients often display metabolic decompensation, hypoketotic hypoglycemia, hepatic encephalopathy, Reye syndrome, and sudden infant death in their first year, followed by the later onset of cardiomyopathy or skeletal myopathy, arrhythmias, muscle weakness, and heart failure in early childhood.[11] This article incorporates text from the United States National Library of Medicine, which is in the public domain.