Hereditary folate malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (pcft/. SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, homozygous, deletion mutation in a child of Nicaraguan descent in exon 2 (c.558-588 del, ss778190447) at amino acid position I188 resulting in a frameshift with a premature stop.
- Folate deficiency
- HCP1, heme carrier protein
- HFM, hereditary folate malabsorption
- Intestinal folate transport
- PCFT, proton-coupled folate transporter
ASJC Scopus subject areas