Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Journal Article (Journal Article)

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204_205 delCC) within the first exon of the proton-coupled folate transporter (PCFT) gene, causing a frameshift. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development now at ages 3 and 1 year. Extending current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum will provide opportunities to define possible genotype-phenotype correlations and clarify the basis for the phenotypic variability that is characteristic of this disorder.

Full Text

Duke Authors

Cited Authors

  • Atabay, B; Turker, M; Ozer, EA; Mahadeo, K; Diop-Bove, N; Goldman, ID

Published Date

  • November 2010

Published In

Volume / Issue

  • 27 / 8

Start / End Page

  • 614 - 619

PubMed ID

  • 20795774

Pubmed Central ID

  • PMC3885236

Electronic International Standard Serial Number (EISSN)

  • 1521-0669

Digital Object Identifier (DOI)

  • 10.3109/08880018.2010.481705


  • eng

Conference Location

  • England