Abstract
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.
Original language | English (US) |
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Pages (from-to) | 614-619 |
Number of pages | 6 |
Journal | Pediatric Hematology and Oncology |
Volume | 27 |
Issue number | 8 |
DOIs | |
State | Published - Oct 18 2010 |
Keywords
- Folate deficiency
- HCP1
- HFM
- Hereditary folate malabsorption
- Megaloblastic anemia
- PCFT
- SLC46A1
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology