The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption

J Pediatr. 2008 Sep;153(3):435-7. doi: 10.1016/j.jpeds.2008.04.009.

Abstract

We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blotting, Northern
  • Blotting, Western
  • DNA Mutational Analysis
  • Exons
  • Female
  • Folic Acid / metabolism*
  • Follow-Up Studies
  • Humans
  • Infusions, Parenteral
  • Leucovorin / administration & dosage
  • Leucovorin / therapeutic use
  • Malabsorption Syndromes / drug therapy
  • Malabsorption Syndromes / genetics*
  • Malabsorption Syndromes / metabolism
  • Membrane Transport Proteins / biosynthesis
  • Membrane Transport Proteins / genetics*
  • Mutation*
  • Proton-Coupled Folate Transporter
  • RNA, Messenger / genetics*
  • Vitamin B Complex / administration & dosage
  • Vitamin B Complex / therapeutic use

Substances

  • Membrane Transport Proteins
  • Proton-Coupled Folate Transporter
  • RNA, Messenger
  • SLC46A1 protein, human
  • Vitamin B Complex
  • Folic Acid
  • Leucovorin