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Arch Dis Child. 1987 January; 62(1): 78–80.
PMCID: PMC1778153

Congenital isolated folic acid malabsorption.


We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects--namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.

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Selected References

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  • GROSSOWICZ N, MANDELBAUM-SHAVIT F, DAVIDOFF R, ARONOVITCH J. Microbiologic determination of folic acid derivatives in blood. Blood. 1962 Nov;20:609–616. [PubMed]
  • Santiago-Borrero PJ, Santini R, Jr, Pérez-Santiago E, Maldonado N. Congenital isolated defect of folic acid absorption. J Pediatr. 1973 Mar;82(3):450–455. [PubMed]
  • Poncz M, Colman N, Herbert V, Schwartz E, Cohen AR. Therapy of congenital folate malabsorption. J Pediatr. 1981 Jan;98(1):76–79. [PubMed]
  • Gross RL, Reid JV, Newberne PM, Burgess B, Marston R, Hift W. Depressed cell-mediated immunity in megaloblastic anemia due to folic acid deficiency. Am J Clin Nutr. 1975 Mar;28(3):225–232. [PubMed]
  • Corbeel L, Van den Berghe G, Jaeken J, Van Tornout J, Eeckels R. Congenital folate malabsorption. Eur J Pediatr. 1985 Mar;143(4):284–290. [PubMed]

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