The Clinical Course and Genetic Defect in the PCFT Gene in a 27-Year-Old Woman with Hereditary Folate Malabsorption

Sang Hee Min, Sun Young Oh, George I. Karp, Mortimer Poncz, Rongbao Zhao, I. David Goldman

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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.

Original languageEnglish (US)
Pages (from-to)435-437
Number of pages3
JournalJournal of Pediatrics
Volume153
Issue number3
DOIs
Publication statusPublished - Sep 1 2008

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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