Congenital defect of folate absorption

Overview

Type of disease: Rare conditions

Hereditary folate malabsorption (HFM) Symptoms may include trouble eating, diarrhea, not being able to gain weight or grow, and frequent bruising or bleeding. Some infants will develop megaloblastic anemia, a blood disorder where the infant does not have enough red blood cells and the ones they make are enlarged, often resulting in a lack of energy, headaches, pale skin, or numbness in the hands and feet. Infants might also have reduced white blood cells, which decreases the infant’s ability to fight off an infection.

HFM is caused by a mutated (changed) SLC46A1 gene. Genes are inherited in pairs, one from the mother and one from the father. This gene is responsible for making a protein that allows folates to pass through the intestine, which is essential for digestion. HFM is inherited in an autosomal recessive manner. This means that two mutated, or changed, genes need to be received, one from the mother and one from the father, to have this disorder.

HFM may be diagnosed during a primary care visit and confirmed using diagnostic tests, including blood tests for folate concentrations and platelet levels, spinal fluid analysis, or bone marrow biopsy (the soft part of bones). Genetic testing is also available to determine the individual has a mutated SLC46A1 gene.

There is no cure for this condition, but medications exist to increase levels of folate in the blood to a healthy and functional level. If you or a family member has been diagnosed with HFM, talk with your doctor about the most current treatment options. Support groups may also provide resources for support and information.

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