Isolated Congenital Malabsorption of Folic Acid in a Male Infant: Insights Into Treatment and Mechanism of Defect

Abstract

An instructive case of isolated congenital folate malabsorption provides insight into the understanding of this rare disease. Folate loading tests with both timed serum and cerebrospinal fluid folate determinations suggest that both of the two mechanisms involved in gastrointestinal folate absorption are defective in this condition.