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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Hereditary folate malabsorption is caused by variants (also called mutations) in the SLC46A1 gene. The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). This protein is found within the membrane of cells, where it helps transport folate into the inside the cell. PCFT is primarily found in cells that line the walls of the small intestine. PCFT transports folate that is absorbed from food into cells of the small intestine so it can be used by the body. PCFT is also found in the brain, where it is involved in the transport of folates between the brain and the surrounding fluid (cerebrospinal fluid).</p><p>Variants in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases, the altered protein is missing from the cell membranes where it is needed to perform its function. Without functional PCFT, cells in the small intestine cannot absorb folates from food and cells in the brain cannot transport folate to the cerebrospinal fluid. These folate deficiencies result in the digestive issues, neurological problems, and other signs and symptoms of hereditary folate malabsorption.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hereditary folate malabsorption?"},{"bodyHtml":"<p>Infants with hereditary folate malabsorption are born with normal amounts of folates in their body because they get these vitamins through the placenta before birth. Affected babies generally begin to show signs and symptoms of the disorder within the first few months of life when they cannot use the folates they get from food.</p><p>Infants with hereditary folate malabsorption often experience feeding difficulties, diarrhea, and swelling or irritation on the inside of the mouth (oral mucositis). These babies also do not gain weight and grow at the expected rate (failure to thrive). Affected individuals usually develop a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). People with hereditary folate malabsorption may also have fewer white blood cells (leukopenia), making them more susceptible to infections. In addition, some affected individuals have fewer platelets (thrombocytopenia), which means they can bruise easily.</p><p>Without treatment, affected individuals may develop neurological problems such as developmental delays, intellectual disabilities, seizures, and difficulty coordinating movements (ataxia). Abnormal deposits of calcium (calcification) in the brain may also occur.</p><p>Pregnant women with hereditary folate malabsorption who are receiving treatment for the vitamin deficiency do not appear to have an increased risk of having children with birth defects caused by folate deficiency, such as spina bifida or anencephaly.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hereditary-folate-malabsorption","sourceDocuments":[{"name":"Hereditary folate malabsorption","reviewed":"2024-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:06.180918+00:00","label":"Causes","pageSha256":"96dfbeca61bc7979f7ceef8acf595b5a6f7b59d0b9f277a470d87bc5f68a8fdb","sourceUrl":"https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hereditary folate malabsorption"},"schemaVersion":1}