Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle by Zhiyong Chen, Marine Berquez, Alessandro Luciani

“…Dysregulation of the mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of intermediary metabolism caused by the deficiency of methylmalonyl-CoA mutase (MMUT) — a mitochondrial enzyme that mediates the degradation of certain amino acids and lipids. …”
Get full text

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other by Namgyu Lee, Dohoon Kim

“…We provide an in-depth illustration of this cross-informing concept in two metabolic disorders, methylmalonic acidemia and hyperammonemia, where the pathological metabolites methylmalonic acid and ammonia are implicated in other disease contexts, such as aging, neurodegeneration, and cancer, and thus there are opportunities to apply mechanistic or therapeutic insights from one disease context towards the other. …”
Get full text

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy by Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché

“…Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. …”
Get full text

Reducing False-Positive Results in Newborn Screening Using Machine Learning by Gang Peng, Yishuo Tang, Tina M. Cowan, Gregory M. Enns, Hongyu Zhao, Curt Scharfe

“…Analytical performance was evaluated for a cohort of 2777 screen positives reported by the California NBS program, which consisted of 235 confirmed cases and 2542 false positives for one of four disorders: glutaric acidemia type 1 (GA-1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). …”
Get full text

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns by Ibarra-González Isabel MSc, Fernández-Lainez Cynthia BSc, Reyes-González Diana MD, Belmont-Martínez Leticia MD, Guillén-López Sara MSc, Monroy-Santoyo Susana MD, Vela-Amieva Marcela MD

“…Of these 11 patients, 4 had isolated methylmalonic acidemia, 3 had maple syrup urine disease, 2 had urea cycle disorders, 1 had 3-hydroxy-3-methylglutaric acidemia, and 1 had isovaleric acidemia. …”
Get full text

Prenatal diagnosis of organic acidemias at a tertiary center by Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS

“…Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. …”
Get full text

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders by Amel Omari, Sarah L. Reeves, Lisa A. Prosser, Melissa S. Creary, Ayesha Ahmad, Kao-Ping Chua

“…The disorders with the highest proportions in which cases were recorded as Hispanic ethnicity/any race were methylmalonic acidemia (48.7%) and maple syrup urine disease (45.7%). …”
Get full text

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant by John C. Fyfe, Shelby L. Hemker, Alycia Frampton, Karthik Raj, Peter L. Nagy, Kristi J. Gibbon, Urs Giger

“…In each we documented dyshematopoiesis, increased anion gap, methylmalonic acidemia/-uria, and serum cobalamin deficiency. …”
Get full text

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand. by Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon

“…The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. …”
Get full text

Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Va... by Yasushi Ueyanagi, Daiki Setoyama, Daisuke Kawakami, Yuichi Mushimoto, Shinya Matsumoto, Taeko Hotta, Dongchon Kang

“…Moreover, a proof-of-concept validation of the system was performed using sera from patients with propionic acidemia (<i>n</i> = 5), methylmalonic acidemia (<i>n</i> = 2), and 3-methylcrotonylglycinuria (<i>n</i> = 1). …”
Get full text

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis by Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu

“…It is suitable for the large‐sample screening of suspected children with methylmalonic acidemia and carriers in population.…”
Get full text

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations by Jiannan Chen, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu

“…Results A total of five types of hereditary neurological disorders were identified in 28 patients, including HSP (15/28), leukodystrophy (5/28), hereditary ataxia (2/28), methylmalonic acidemia/methylenetetrahydrofolate reductase deficiency (5/28), and Charcot-Marie-tooth atrophy (1/28). …”
Get full text

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance by Gang Peng, Gang Peng, Yishuo Tang, Tina M. Cowan, Hongyu Zhao, Hongyu Zhao, Curt Scharfe

“…Metabolite level differences identified between groups were correlated to NBS data from false-positive cases for inborn metabolic disorders including carnitine transport defect (CTD), isovaleric acidemia (IVA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). Our results showed that 56% of the metabolites had AaBC-related differences, which included metabolites with either decreasing or increasing levels after birth. …”
Get full text

Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report by Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Zhi-Jun Zhu, Hai-Bo Wang, Li-Ying Sun

“…Abstract Background Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. …”
Get full text

Selective screening in neonates suspected to have inborn errors of metabolism by Rabah M. Shawky, Heba Salah Abd-Elkhalek, Samah Elyamani Elakhdar

“…Results: 13 patients (32.5%) were diagnosed as having IEM, 7 of them (53.8%) had urea cycle defect, 2 (15.4%) had maple syrup urine disease, while methylmalonic acidemia, fatty acid oxidation defect, mitochondrial disease, and galactosemia were diagnosed in one patient each (7.7%). …”
Get full text

Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria by LI Jing, Yi-ming SUN, Li-yu OU, Yu-ling ZHU, Liang WANG, Huan LI, Cheng ZHANG

“…<p><strong>Objective </strong> To explore the clinical features, genetic mutation and vitamin B₁₂therapeutive effectiveness in vitamin B_12-dependent methylmalonic acidemia (MMA). <strong>Methods</strong> Clinical data in a pedigree of 4 members with vitamin B_12-dependent MMA was collected. …”
Get full text

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates by Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jianbin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao

“…Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson’s disease. …”
Get full text

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China by Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang

“…Phenylketonuria (PKU, 1/7211) was the most common IEM, followed by methylmalonic acidemia (MMA, 1/27244), short‐chain acyl‐CoA dehydrogenase deficiency (SCADD, 1/30649), and citrin deficiency (CD, 1/35028). …”
Get full text

A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry by BIJO VARUGHESE, DNYANOBA MADREWAR, SUNIL KUMAR POLIPALLI, SIDDARTH RAMJI, SEEMA KAPOOR

“…Introduction: Inactivity or diminished activity of an enzyme Methylmalonyl-CoA mutase (a Cobalamin dependent) enzyme causes inborn error of metabolism named Methylmalonic Acidemia/Aciduria (MMA). Liquid Chromatography-tandem Mass Spectrometry (LC-MS/MS) based method for the diagnosis of MMA in Newborn Screening (NBS), is often challenging due to the nonspecificity of propionylcarnitine (C3), a primary marker in routine NBS. …”
Get full text

Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegans by Emma Watson, Viridiana Olin-Sandoval, Michael J Hoy, Chi-Hua Li, Timo Louisse, Victoria Yao, Akihiro Mori, Amy D Holdorf, Olga G Troyanskaya, Markus Ralser, Albertha JM Walhout

“…Using genetic interaction mapping, gene co-expression analysis, pathway intermediate quantification and carbon tracing, we uncover a vitamin B12-independent propionate breakdown shunt that is transcriptionally activated on vitamin B12 deficient diets, or under genetic conditions mimicking the human diseases propionic- and methylmalonic acidemia, in which the canonical B12-dependent propionate breakdown pathway is blocked. …”
Get full text