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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SLC25A19 gene cause Amish lethal microcephaly.</p><p>The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.</p><p>All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Amish lethal microcephaly?"},{"bodyHtml":"<p>Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).</p><p>Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"amish-lethal-microcephaly","sourceDocuments":[{"name":"Amish lethal microcephaly","reviewed":"2007-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:20.767086+00:00","label":"Causes","pageSha256":"97930c4ad2aa3b1af49b0d2fa5143ecb26a154b3830e0bd4ee73a41c4b2f93fd","sourceUrl":"https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly"}],"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":"Amish lethal microcephaly"},"schemaVersion":1}