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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the SLC19A2 gene cause TRMA. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions.</p><p>Most variants in the SLC19A2 gene lead to the production of an abnormally short, nonfunctional version of thiamine transporter 1. Other variants change single protein building blocks (amino acids) in thiamine transporter 1. All of these variants disrupt the protein&#x27;s ability to bring thiamine into the cell. TRMA is treated with daily doses of thiamine because some thiamine can pass into the cell without the help of a transporter when the vitamin is present in large amounts.</p><p>It remains unclear exactly how variants in the SLC19A2 gene cause the specific set of features seen in people with TRMA. Research suggests that an alternative transporter made by a different gene is available to transport thiamine in many tissues of the body. However, this alternative transporter may not be as active in the inner ear, the bone marrow (where blood cells are made), and the pancreas (where insulin is made), which would explain why these tissues are affected in people with TRMA.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/thiamine-responsive-megaloblastic-anemia-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Thiamine-responsive megaloblastic anemia syndrome?"},{"bodyHtml":"<p>In people with TRMA, hearing loss typically develops during early childhood and is caused by abnormalities of the inner ear (sensorineural hearing loss). The hearing loss usually worsens over time. It remains unclear whether treatment with thiamine can improve hearing or delay hearing loss in people with TRMA.</p><p>People with TRMA often develop diabetes mellitus, a condition in which glucose levels can become dangerously high, at an early age. Although some individuals with TRMA develop diabetes during childhood, they do not have the autoimmune form of diabetes that typically develops in children, called type 1 diabetes. People with TRMA usually require insulin to treat their diabetes. In some cases, treatment with thiamine may delay the onset of diabetes or reduce the amount of insulin a person needs.</p><p>Some individuals with TRMA have abnormalities of the eye, including optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Additional features of this condition may include heart and blood vessel (cardiovascular) problems, intellectual disabilities, behavioral changes, and seizures.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/thiamine-responsive-megaloblastic-anemia-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"thiamine-responsive-megaloblastic-anemia-syndrome","sourceDocuments":[{"name":"Thiamine-responsive megaloblastic anemia syndrome","reviewed":"2024-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:27.064651+00:00","label":"Causes","pageSha256":"14a5fefe7306389789f2ac65395d2bc1dbbb26ef82ea44bf514944c4291a936a","sourceUrl":"https://medlineplus.gov/genetics/condition/thiamine-responsive-megaloblastic-anemia-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/thiamine-responsive-megaloblastic-anemia-syndrome"}],"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":"Thiamine-responsive megaloblastic anemia syndrome"},"schemaVersion":1}