Hereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway. It is caused by a defect in the SLC46A1 gene that encodes the proton-coupled folate transporter protein which is responsible for folate uptake from the intestines. Hereditary folate malabsorption is characterized by low concentrations of folate in the serum and cerebrospinal fluid. Symptoms include feeding difficulties and failure to thrive and anemia, as well as potential neurological issues such as seizures and developmental delays. When infants are born with hereditary folate malabsorption, there are initially few signs, as folate is provided across the placenta, but after birth, folate absorption is inhibited and these symptoms begin to be exhibited. Treatment for hereditary folate malabsorption includes intramuscular or oral doses of reduced folates to bring cerebrospinal fluid folate levels to a normal range, as well as blood transfusions if severe anemia is present. It is estimated that hereditary folate malabsorption affects less than 1 in 1,0000,000 people, with only approximately 30 reported cases.

Folate Malabsorption, Hereditary References

Folate Metabolism References