Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations by Patrice K. Held, Emily Singh, Jessica Scott Schwoerer

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Clinical Application of Liquid Chromatography Tandem Mass Spectrometry Using Dried Blood Spot as a More Rapid Method for Determination of Methylmalonic Acid, Propionylcarnitine, an... by Hiroyuki Iijima, Nobuyuki Ishige, Mitsuru Kubota

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Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach by Fereshteh Maryami, Elham Rismani, Elham Davoudi-Dehaghani, Nasrin Khalesi, Fatemeh Zafarghandi Motlagh, Alireza Kordafshari, Saeed Talebi, Hamzeh Rahimi, Sirous Zeinali

Subjects: “…Methylmalonic acidemia…”
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Late-onset cblC defect: clinical, biochemical and molecular analysis by Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han

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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. by Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun

“…Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). …”
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Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway by Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen

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High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency by Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang

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Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress by Michele Costanzo, Marianna Caterino, Armando Cevenini, Vincent Jung, Cerina Chhuon, Joanna Lipecka, Roberta Fedele, Ida Chiara Guerrera, Margherita Ruoppolo

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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases by Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang

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The Effect of Methylmalonic Acid Treatment on Human Neuronal Cell Coenzyme Q₁₀ Status and Mitochondrial Function by Emma C. Proctor, Nadia Turton, Elle Jo Boan, Emily Bennett, Suzannah Philips, Robert A. Heaton, Iain P. Hargreaves

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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in sou... by Dévora N. Randon, Fernanda Sperb-Ludwig, Fernanda S. L. Vianna, Ana P. P. Becker, Carmen R. Vargas, Angela Sitta, Alexia N. Sant’Ana, Ida V. D. Schwartz, Fernanda H. de Bitencourt

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Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources? by Xiaoyu Cui, Xiaoyu Cui, Na Li, Hong Xue, Fang Zhang, Jianbo Shu, Jianbo Shu, Yang Liu

“…Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. …”
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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency by Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst

“…Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. …”
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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population by Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong

“…The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. …”
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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population by Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai

“…Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. …”
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Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods by Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

“…After whole-exome sequencing, nine diseases were confirmed in these patients: Angelman syndrome and Krabbe disease in case 1, Citrin deficiency and Kabuki syndrome in case 2, Homocysteinemia type 2 and Copy number variant in case 3, Isolated methylmalonic acidemia and Niemann-Pick disease type B in case 4, Isolated methylmalonic acidemia and 21-hydroxylase deficiency in case 5. …”
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A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish by Maximilian Breuer, Shunmoogum A. Patten

“…Subsequently, several rare inherited metabolic disorders have been successfully investigated in zebrafish revealing underlying mechanisms and identifying novel therapeutic targets, including methylmalonic acidemia, Gaucher’s disease, maple urine disorder, hyperammonemia, TRAPPC11-CDGs, and others. …”
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Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria by Firouzeh Sajedi

“…Following the treatment marked improvement in neurologic and mental state appeared and also Methylmalonic acidemia and homocystinuria was controlled.…”
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A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans by Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe

“…The dodecylamine derivative did not affect the levels of mRNAs encoding these enzymes or those of other proteins involved in intercellular cobalamin metabolism, including methylmalonyl-CoA mutase (mmcm-1), methylmalonic acidemia cobalamin A complementation group (mmaa-1), methylmalonic aciduria cblC type (cblc-1), and methionine synthase reductase (mtrr-1). …”
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Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia by Sara Nikpour, Peyman Eshraghi, Ehsan Ghayoor, Nosrat Ghaemi, Sepideh Bagheri, Samaneh Norouziasl, Mojtaba Lotfi

“…Transcobalamin deficiency as a rare autosomal recessive disorder and methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism. …”
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