{"id":11518,"date":"2025-07-26T14:58:09","date_gmt":"2025-07-26T12:58:09","guid":{"rendered":"https:\/\/valintermed.com\/?p=11518"},"modified":"2025-07-26T14:58:09","modified_gmt":"2025-07-26T12:58:09","slug":"gipermetioninemiya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/","title":{"rendered":"Hypermethioninemia"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Hypermethioninemia is a rare inherited metabolic disorder characterized by elevated plasma levels of the amino acid methionine. This disorder can cause severe metabolic disturbances and various clinical manifestations related to the toxicity of methionine and its metabolites. The mechanism of hypermethioninemia is attributed to a deficiency of enzymes involved in methionine metabolism, which leads to its accumulation in the body. The main clinical manifestations of the disease include neurological disorders, developmental delay, and liver dysfunction. Diagnosis and subsequent treatment of hypermethioninemia require a multidisciplinary approach, including geneticists, nutritionists, and specialists in metabolic diseases.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 eztoc-toggle-hide-by-default' ><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >History of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C\" >Genetic predisposition<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/hypermetioninemia\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>History of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Hypermethioninemia as a disease was first described in the mid-20th century, when scientists began studying rare metabolic disorders. Pioneering studies in the 1960s revealed a link between high methionine levels and neuropathologies. Scientists noticed that some patients with neurological symptoms had abnormally high levels of this amino acid. This opened up new horizons for research in genetics and biochemistry aimed at studying amino acid metabolism. Interestingly, in 1982, the gene responsible for methionine metabolism was identified, which provided new insights into the mechanisms of the disease and the possibilities for its treatment.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>According to epidemiological studies, the prevalence of hypermethioninemia is approximately 1 in 100,000 newborns. This pathology has a higher frequency in some populations, especially in representatives of national minorities, whose genetic characteristics may predispose to the occurrence of the disease. Studies conducted in various countries show that the number of detected cases is gradually increasing due to improved diagnostic methods and screening of newborns. In addition, current statistics indicate that metabolic diseases are becoming increasingly relevant, which is associated with the growing awareness of the symptoms and manifestations of such conditions.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C\"><\/span>Genetic predisposition<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Genetic predisposition to hypermethioninemia is caused by mutations in genes encoding enzymes involved in methionine metabolism. The main gene associated with this disorder is the MAT1A (methionine adenosyltransferase) gene, which is responsible for the process of converting methionine into other compounds in the liver. Mutations in this gene can lead to complete or partial loss of enzyme functionality, which in turn causes accumulation of methionine in the body. Other genes involved include genes responsible for the regulation of serine and homocysteine metabolism, which may also play a role in the pathogenesis of the disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The risk of developing hypermethioninemia may increase under the influence of various factors, including genetic and environmental ones. The main risk factors include:<\/p>\n<ul>\n<li>Hereditary predisposition: presence of cases of the disease in the family.<\/li>\n<li>Mutations in specific genes, as already mentioned, in the MAT1A gene and others, affecting amino acid metabolism.<\/li>\n<li>Environmental factors: exposure to chemicals in early childhood, which can cause metabolic disorders.<\/li>\n<li>Nutrition: Deficiency of certain vitamins and minerals needed for methionine metabolism.<\/li>\n<li>Concomitant diseases: the presence of other endocrine and metabolic diseases, which can complicate the clinical picture.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The diagnosis of hypermethioninemia is based on a combination of clinical and laboratory tests. The main symptoms that health care professionals pay attention to include neurological disorders, delayed psychomotor development, and liver inflammation syndrome. Laboratory tests suggest:<\/p>\n<ul>\n<li>Blood test for levels of methionine and other amino acids.<\/li>\n<li>Genetic tests for mutations in genes responsible for methionine metabolism.<\/li>\n<li>Biochemical tests to assess liver function and general health.<\/li>\n<li>Radiological examinations to rule out structural abnormalities.<\/li>\n<li>Differential diagnosis to exclude other metabolic disorders such as hyperhomocysteinemia.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of hypermethioninemia requires a comprehensive approach aimed at reducing methionine levels and normalizing metabolic processes. The main methods include:<\/p>\n<ul>\n<li>Diet therapy: prescription of a special diet with methionine restriction.<\/li>\n<li>Pharmacological treatment: use of drugs that promote the elimination of methionine from the body.<\/li>\n<li>Surgery: In extreme cases, when there is a risk of serious complications, a liver transplant may be possible.<\/li>\n<li>Other therapies include using vitamins and minerals to improve metabolism.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>There are a limited number of medications that can be used to treat hypermethioninemia:<\/p>\n<ul>\n<li>Betaine \u2013 to reduce homocysteine levels and improve metabolism.<\/li>\n<li>Folic acid \u2013 necessary for normalizing levels of B vitamins.<\/li>\n<li>Detoxification drugs \u2013 to reduce the toxicity of methionine and its metabolites.<\/li>\n<li>Amino acid preparations \u2013 to correct the deficiency of other essential amino acids.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of patients with hypermethioninemia is an integral part of treatment. Control steps should include:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>Regular blood tests for levels of methionine and other metabolites.<\/li>\n<li>Evaluation of liver function and other organs.<\/li>\n<li>Documentation of clinical changes and adaptation of therapy based on the data obtained.<\/li>\n<li>The prognosis for patients depends on the severity of the disease and the effectiveness of treatment, but with timely intervention, many patients achieve good results.<\/li>\n<li>Complications may include acute liver injury and neurological disorders, requiring close monitoring.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Hypermethioninemia can occur in any age group, but is most often found in neonates and young children. Severely affected patients experience developmental delays and psychoemotional disorders. In later life, such patients may develop various neurological complications. Adolescents may face problems related to learning, development, and social interactions. Adults with this pathology may have understandable jobs in restrictive conditions and require special attention to their psychosocial state.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of hypermethioninemia?<\/strong> The main symptoms include neurological disorders, psychomotor delay, liver problems and general malaise.<\/li>\n<li><strong>Is it possible to prevent the disease?<\/strong> Prevention is possible through newborn screening and genetic counseling to identify predisposition.<\/li>\n<li><strong>What is the treatment for hypermethioninemia?<\/strong> Treatment includes a low-methionine diet, medications, and, in rare cases, surgery.<\/li>\n<li><strong>Are there any complications with hypermethioninemia?<\/strong> Yes, serious complications from the liver and brain are possible, which require constant monitoring and treatment adjustments.<\/li>\n<li><strong>At what age does the disease become most obvious?<\/strong> Most often, hypermethioninemia is detected in newborns and young children at the screening stage.<\/li>\n<\/ul>\n<p>Advice from Dr. Oleg Korzhikov on hypermethioninemia emphasizes the importance of regular monitoring and dietary adjustments. \u201cPatients with this disease should strictly follow dietary instructions, and regular monitoring of methionine levels is extremely important. Therapy may need to be revised based on the results obtained. It is important to remember the importance of support from family and specialists, as this disease requires a comprehensive approach to both treatment and social rehabilitation.\u201d<\/p>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Hypermethioninemia is a rare inherited metabolic disorder characterized by elevated levels of the amino acid methionine in blood plasma. This disorder can<\/p>","protected":false},"author":1,"featured_media":19469,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-11518","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11518","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=11518"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11518\/revisions"}],"predecessor-version":[{"id":15697,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11518\/revisions\/15697"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/19469"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=11518"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=11518"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=11518"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}