{"id":215,"date":"2023-12-21T09:18:15","date_gmt":"2023-12-21T09:18:15","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=4e87835526c6a191b4dca3222635d286"},"modified":"2023-12-21T09:18:15","modified_gmt":"2023-12-21T09:18:15","slug":"evaluation-of-the-clinical-biochemical-genotype-and-prognosis-of-mut-type-methylmalonic-acidemia-in-365-chinese-cases","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/evaluation-of-the-clinical-biochemical-genotype-and-prognosis-of-mut-type-methylmalonic-acidemia-in-365-chinese-cases\/","title":{"rendered":"Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases"},"content":{"rendered":"\n<sec><st>Background<\/st>\n<p>Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase (<I>mut<\/I> type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of <I>mut<\/I>-type MMA in Chinese patients.<\/p>\n<\/sec>\n<sec><st>Methods<\/st>\n<p>We recruited 365 patients with <I>mut<\/I>-type MMA; investigated their disease onset, newborn screening (NBS) status, biochemical metabolite levels, gene variations and prognosis; and explored the relationship between phenotype and genotype.<\/p>\n<\/sec>\n<sec><st>Results<\/st>\n<p>There were 152 patients diagnosed by tandem mass spectrometry (MS\/MS) expanded NBS, 209 patients diagnosed because of disease onset without NBS and 4 cases diagnosed because of sibling diagnosis. The median age of onset was 15 days old, with a variety of symptoms without specificity. Urinary levels of methylmalonic acid and methylcitric acid (MCA) decreased after treatment. Regarding the prognosis, among the 152 patients with NBS, 50.6% were healthy, 30.3% had neurocognitive impairment and\/or movement disorders and 13.8% died. Among the 209 patients without NBS, 15.3% were healthy, 45.9% had neurocognitive impairment and\/or movement disorders and 33.0% died. In total, 179 variants were detected in the <I>MMUT<\/I> gene, including 52 novel variations. c.729_730insTT, c.1106G&gt;A, c.323G&gt;A, c.914T&gt;C and c.1663G&gt;A were the five most frequent variations. The c.1663G&gt;A variation led to a milder phenotype and better prognosis.<\/p>\n<\/sec>\n<sec><st>Conclusion<\/st>\n<p>There is a wide spectrum of variations in the <I>MMUT<\/I> gene with several common variations. Although the overall prognosis of <I>mut<\/I>-type MMA was poor, participation in MS\/MS expanded NBS, vitamin B<SUB>12<\/SUB> responsive and late onset are favourable factors for the prognosis.<\/p>\n<\/sec>\n","protected":false},"excerpt":{"rendered":"<p>Background<br \/>\nMethylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase (mut type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotyp&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[],"class_list":["post-215","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/215","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=215"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/215\/revisions"}],"predecessor-version":[{"id":216,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/215\/revisions\/216"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=215"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=215"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=215"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}