Inborn Errors of Folate Metabolism

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Abstract
(Second of Two Parts)Inborn Errors of Folate MetabolismThe established and putative inborn errors of folate metabolism and the total number of patients described with each are shown in Table 1 and Figure 3. The disorders can be classified according to whether the primary defect is thought to involve the uptake, interconversion or utilization of folates.Congenital Malabsorption of FolateA congenital disorder involving folate was identified in 196147 in a three-month-old girl with severe megaloblastic anemia. Subsequently, three additional patients, one a sister of the original patient, have been described.48 49 50 51 All four of these patients have shown low serum folate levels, . . .