hereditary folate malabsorption
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Epidemiology
rare
Pathology
- impaired intestinal folate absorption
- folate deficiency
- impaired transport of folates into central nervous system
Genetics
- autosomal recessive
- associated with defects in SLC46A1 gene
Clinical manifestations
- recurrent infections
- recurrent or chronic diarrhea
- neurological abnormalities, including seizures or mental retardation become apparent during early childhood
Laboratory
- megaloblastic anemia
- hypoimmunoglobulinemia
Management
- when diagnosed early, treated by administration of folate
- if treatment is delayed, neurological defects can become permanent
- if untreated, it can be fatal