Condition report · Nutrition
An autosomal recessive disorder caused by mutations in the SLC46A1 gene, which encodes the proton-coupled folate transporter (PCFT). Intestinal cells cannot absorb dietary folate or transport it into the central nervous system, leading to severe infantile megaloblastic anemia, failure to thrive, and seizures, despite a normal diet.
A condition report looks for rare variants known to cause the conditions it covers.
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What your report covers
Autosomal recessive · 30 cases in around 15 affected families identified worldwide
Signs and symptoms
Failure to thrive and seizures despite a normal diagnosis are often observed.
What a diagnosis changes
High-dose intramuscular (parenteral) folinic acid or levofolinic acid to bypass intestinal absorption blocks
Genes analysed
Also known as
congenital defect of folate absorption; congenital folate malabsorption; folic acid transport defect
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