期刊
PEDIATRIC HEMATOLOGY AND ONCOLOGY
卷 27, 期 8, 页码 614-619出版社
INFORMA HEALTHCARE
DOI: 10.3109/08880018.2010.481705
关键词
folate deficiency; HCP1; hereditary folate malabsorption; HFM; megaloblastic anemia; PCFT; SLC46A1
资金
- NCI NIH HHS [P30 CA013330] Funding Source: Medline
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.
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