Hereditary Folate Malabsorption

Hereditary folate malabsorption is a rare genetic disorder that prevents your body from absorbing folate properly. Folate, also called vitamin B9, is essential for making new cells and DNA. Your intestines normally absorb folate from food using a protein transporter called PCFT. When this transporter does not work correctly, folate cannot enter your blood and cells.

This condition is caused by mutations in the SLC46A1 gene. You must inherit two mutated copies, one from each parent, to develop the disorder. Without enough folate, your body struggles to make red blood cells and support brain development. Symptoms usually appear within the first few months of life.

Early detection and treatment are critical for preventing serious complications. With proper folate replacement therapy, most people with this condition can live healthy lives. Blood tests measuring folate levels help doctors diagnose and monitor this disorder.

• Severe anemia appearing in early infancy
• Poor feeding and failure to gain weight
• Developmental delays and intellectual disability if untreated
• Low muscle tone and weakness
• Seizures in some cases
• Frequent infections due to weakened immune system
• Mouth sores and inflammation
• Pale skin and fatigue

Symptoms typically begin within the first few months of life. Because this is a genetic condition present from birth, there is no asymptomatic period once folate stores from pregnancy are depleted.

Hereditary folate malabsorption is caused by mutations in the SLC46A1 gene. This gene provides instructions for making the proton-coupled folate transporter, or PCFT. This protein sits in the lining of your small intestine and helps move folate from food into your bloodstream. When both copies of this gene are mutated, the transporter cannot function properly.

This is an autosomal recessive disorder, meaning both parents must carry one mutated gene copy. Parents who carry one mutated copy are called carriers and usually have no symptoms. When two carriers have children together, each pregnancy has a 25% chance of resulting in a child with the condition. The disorder affects all ethnic groups but is extremely rare worldwide.

Doctors diagnose hereditary folate malabsorption through blood tests that measure folate levels. Very low red blood cell folate, or RBC folate, is the key diagnostic finding. Low folate levels in the blood serum also support the diagnosis. These tests show that your body is not absorbing or storing folate properly despite adequate dietary intake.

Genetic testing can confirm the diagnosis by identifying mutations in the SLC46A1 gene. Rite Aid offers folate and RBC testing that can help detect abnormal folate levels. Additional specialized testing may be needed to rule out other causes of low folate. Your doctor will review your complete medical history and family background to make the final diagnosis.

• High-dose folinic acid given by injection or intravenous infusion
• Regular monitoring of folate levels through blood tests
• Treatment of anemia with folate replacement therapy
• Early intervention services for developmental support
• Nutritional support to ensure adequate calorie and nutrient intake
• Antibiotics when needed to treat or prevent infections
• Seizure medications if seizures occur
• Lifelong folate supplementation to maintain normal levels