{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T13:41:02Z","timestamp":1792503662747,"version":"4.5.0"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011494","name":"Baoding City Science and Technology and Intellectual Property Bureau","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011494","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed. Especially when the blood vitamin B12 and folic acid levels are normal, it is not easy to think of this disease. Herein we report a 9-year-old girl who developed normally on a relatively balanced diet before 7 years of age. However, she presented with fatigue and attention deficit when she followed a vegetarian diet. Laboratory examination showed moderate macrocytic anemia, high levels of homocysteine, high level of propionylcarnitine\/acetylcarnitine, urinary methylmalonic acid and methyl citrate. Gene mutation analysis showed c.609G &amp;gt; A and c.80A &amp;gt; G compound heterozygous mutations in the <jats:italic>MMACHC<\/jats:italic> gene, supported late-onset combined methylmalonic academia with homocysteinemia. Then treatment performed with add meat to the diet, vitamin B12, folic acid betaine and L-carnitine supplement. One week later, the child's clinical symptoms and the laboratory examinations were significantly improved.<\/jats:p>","DOI":"10.3389\/fped.2022.896177","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T06:50:18Z","timestamp":1657608618000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet"],"prefix":"10.3389","volume":"10","author":[{"given":"Bei","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yahong","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1038\/jhg.2010.81","article-title":"Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria","volume":"55","author":"Liu","year":"2010","journal-title":"J Hum Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"414","DOI":"10.3760\/cma.j.issn.0578-1310.2018.06.003","article-title":"Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China","volume":"56","author":"Liu","year":"2018","journal-title":"Zhonghua Er Ke Za Zhi."},{"key":"B3","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s12881-018-0666-x","article-title":"Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria","volume":"19","author":"Hu","year":"2018","journal-title":"BMC Med Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.ymgme.2006.04.001","article-title":"Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations","volume":"88","author":"Morel","year":"2006","journal-title":"Mol Genet Metab."},{"key":"B5","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.jns.2012.04.012","article-title":"A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China","volume":"318","author":"Wang","year":"2012","journal-title":"J Neurol Sci."},{"key":"B6","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1038\/sj.jp.7210955","article-title":"Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria\/hyperhomocysteinemia (cblC) in the neonate","volume":"23","author":"Harding","year":"2003","journal-title":"J Perinatol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/s10545-011-9365-x","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type II complications, pathophysiology, and outcomes","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J Inherit Metab Dis."},{"key":"B8","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/j.braindev.2015.10.016","article-title":"Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China","volume":"38","author":"Han","year":"2016","journal-title":"Brain Dev."},{"key":"B9","doi-asserted-by":"publisher","first-page":"73","DOI":"10.5582\/irdr.2018.01026","article-title":"and Han J. 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