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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Primary hypermethioninemia that is not associated with other metabolic disorders can be caused by variants (also known as mutations) in the MAT1A, GNMT, or AHCY gene. These genes provide instructions for making enzymes that each carry out one step of the multistep process to break down methionine. The reactions involved help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes.</p><p>The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe.</p><p>The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine (also known as AdoHcy).</p><p>The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine.</p><p>Variants in one of these genes result in a shortage (deficiency) of an enzyme involved in breaking down methionine. A deficiency of any of these enzymes leads to a buildup of methionine in the body, which may cause signs and symptoms related to hypermethioninemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hypermethioninemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hypermethioninemia?"},{"bodyHtml":"<p>People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.</p><p>Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia, and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula. The condition is called primary hypermethioninemia when it is not associated with other metabolic disorders or excess methionine in the diet.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hypermethioninemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hypermethioninemia","sourceDocuments":[{"name":"Hypermethioninemia","reviewed":"2007-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:19.495397+00:00","label":"Causes","pageSha256":"bed7b45f5939fbba68e371ad259b8221f4e8a0b072237f226a3ca098aa081305","sourceUrl":"https://medlineplus.gov/genetics/condition/hypermethioninemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hypermethioninemia"}],"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":"Hypermethioninemia"},"schemaVersion":1}