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In the rare congenital recessive syndrome of selective malabsorption of folate due to mutation of the proton-coupled folate transporter (PCFT), there is an associated defect of folate transport into the cerebrospinal fluid, and these patients show megaloblastic anemia, which responds to physiologic doses of folic acid given parenterally but not orally

Research involving 5 Amino-1MQ focuses on biochemical and enzyme-associated analysis, including the study of NNMT inhibition, nicotinamide metabolism, and related signaling pathways at the cellular and molecular scale