Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico

These findings are consistent with a common mutation in the PCFT gene causing HFM that has disseminated to Puerto Ricans who have migrated to mainland United States. Because prompt diagnosis and treatment of infants with HFM can prevent the consequences of this disorder, newborn screening should be considered in high-risk populations and physicians should be aware of its prevalence in infants of Puerto Rican ancestry.