Primary Carnitine Deficiency

About the Disease
Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to abdominal obesity-metabolic syndrome 1 and reye syndrome, and has symptoms including muscle weakness An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Quinidine and Dextromethorphan have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and skeletal muscle, and related phenotypes are hepatomegaly and vomiting

Common Targets
SLC22A5

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