Novel AAV-mediated genome editing therapy improves health and survival in a mouse model of methylmalonic acidemia. by Shengwen Zhang, Amy Bastille, Susana Gordo, Nikhil Ramesh, Jenisha Vora, Elizabeth McCarthy, Xiaohan Zhang, Dylan Frank, Chih-Wei Ko, Carmen Wu, Noel Walsh, Shreya Amarwani, Jing Liao, Qiang Xiong, Lauren Drouin, Matthias Hebben, Kyle Chiang, B Nelson Chau

“…Methylmalonic acidemia (MMA) is an inborn error of metabolism mostly caused by mutations in the mitochondrial methylmalonyl-CoA mutase gene (MMUT). …”
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Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis by Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang, Zhi-Jun Zhu

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Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations by Weigang Lv, Lili Liang, Xin Chen, Zhuo Li, Desheng Liang, Huimin Zhu, Yanling Teng, Weijuan Wu, Lingqian Wu, Lianshu Han

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Successful perioperative management of living-donor liver transplantation for a patient with severe methylmalonic acidemia: a case report by Akiko Hirotsu, Eriko Kusudo, Natsumi Mori, Yoshimitsu Miyai, Kengo Suzuki, Shuji Kawamoto, Kazuhiko Fukuda

Subjects: “…Methylmalonic acidemia…”
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Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review by Jun Zhu, Shuisen Wan, Xueqi Zhao, Binlu Zhu, Yuan Lv, Hongkun Jiang

Subjects: “…methylmalonic acidemia…”
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Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations by Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu Ma

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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings by Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

“…Abstract Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA); or deficiency of the enzyme methylmalonyl-CoA epimerase. …”
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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial by Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari

“…Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. …”
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Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age by Mengmeng Du, Shengnan Wu, Yongxing Chen, Shuxian Yuan, Shijie Dong, Huizhen Wang, Haiyan Wei, Changlian Zhu

“…Abstract Methylmalonic acidemia (MMA) is the most common inborn organic acidemia, presenting multisystemic complications. …”
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Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant by Valerie Olson, Irene J Chang, J Lawrence Merritt 2nd, Dararat Mingbunjerdsuk

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ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia by Petr O. Ilyinskii, Alicia M. Michaud, Gina L. Rizzo, Christopher J. Roy, Sheldon S. Leung, Stephanie L. Elkins, Teresa Capela, Aparajita Chowdhury, Lina Li, Randy J. Chandler, Irini Manoli, Eva Andres-Mateos, Lloyd P.M. Johnston, Luk H. Vandenberghe, Charles P. Venditti, Takashi Kei Kishimoto

“…ImmTOR and AAV Anc80 encoding the methylmalonyl-coenzyme A (CoA) mutase (MMUT) combination was tested in a mouse model of methylmalonic acidemia, a disease caused by mutations in the MMUT gene. …”
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Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect by Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez, Mauricio Rojas-Maruri, Cecilia Ridaura-Sanz

“…Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. …”
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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups by Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu

Subjects: “…Methylmalonic acidemia…”
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Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis by Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park

Subjects: “…combined methylmalonic acidemia with homocystinuria…”
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Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene by Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang, Mingqin Zhu

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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation by Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada

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Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review by Rui Dong, Chen Liu, Yulin Liu, Haiyan Zhang, Guohua Liu, Yi Liu, Zhongtao Gai

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Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment by Shuqi Sun, Hong Jin, Yu Rong, Wenqi Song, Qiliang Li

Subjects: “…methylmalonic acidemia…”
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Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC) by Nadia Waheed, Zafar Fayyaz, Ahmad Imran

Subjects: “…Methylmalonic acidemia…”
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Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia by Christopher Markham, Caroline Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy, Kenneth E. Remy

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