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

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.

SUBMITTER: Min SH

PROVIDER: S-EPMC3835188 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature

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

Min Sang Hee SH Oh Sun Young SY Karp George I GI Poncz Mortimer M Zhao Rongbao R Goldman I David ID

The Journal of pediatrics 20080901 3

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. ...[more]

PMID: 18718264

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