Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia by Casey Siegel, Ronen Arnon, Sander Florman, John Bucuvalas, Kimihiko Oishi

Subjects: “…Methylmalonic acidemia…”
Get full text

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia by Dagbjört Agnarsdóttir, Vaka Kristín Sigurjónsdóttir, Arna Rut Emilsdóttir, Erna Petersen, Gunnlaugur Sigfússon, Ingólfur Rögnvaldsson, Leifur Franzson, Hilary Vernon, Hans Tomas Bjornsson

“…Methods Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB‐type methylmalonic acidemia (MMA). Biochemical testing of this patient suggested B‐12‐responsiveness and thus the patient was treated with cyanocobalamin throughout life. …”
Get full text

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient by Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin

“…This condition is characterized by combined methylmalonic acidemia and hyperhomocysteinemia, displaying a wide range of clinical manifestations involving multiple organs. …”
Get full text

Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression by Alberto B. Burlina, Alessandro P. Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R. Baumgartner, Vincenza Gragnaniello

Subjects: Get full text

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9 by Randy J. Chandler, Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts, Irini Manoli, John A. Chiorini, Charles P. Venditti

Subjects: Get full text

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review by Vasiliki Karava, Antonia Kondou, John Dotis, Georgia Sotiriou, Spyridon Gerou, Helen Michelakakis, Euthymia Vargiami, Marina Economou, Dimitrios Zafeiriou, Nikoleta Printza

Subjects: Get full text

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China by Bingjuan Han, Wenying Nie, Meng Sun, Yingxia Liu, Zhiyang Cao

“…Background: The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene. …”
Get full text

Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemiaResearch in context by Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey

“…Background: Isolated methylmalonic acidemia/aciduria (MMA) is an ultra-rare, serious, inherited metabolic disorder with significant morbidity and mortality. …”
Get full text

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet by Bei Xu, Lihong Zhang, Qiang Chen, Yajuan Wang, Yahong Peng, Hui Tang

“…Methylmalonic acidemia is a rare autosomal recessive metabolic disease. …”
Get full text

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature by Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano

Subjects: “…methylmalonic acidemia…”
Get full text

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening by Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han

Subjects: “…methylmalonic acidemia combined with homocysteinemia…”
Get full text

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type by E. Richard, S. Brasil, A. Briso-Montiano, E. Alonso-Barroso, M.E. Gallardo, B. Merinero, M. Ugarte, L.R. Desviat, B. Pérez

“…Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). …”
Get full text

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). …”
Get full text

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). …”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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…”
Get full text

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…”
Get full text

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. …”
Get full text

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

Get full text