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Methylmalonic Acidemia

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Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report.

Hong-Yu Liao, Xiao-Qing Shi, Yi-Fei Li,

BACKGROUNDPulmonary hypertension (PH) causes significant morbidity and mortality in diverse childhood diseases. However, limited information has been reported to obtain a good understanding of pediatric PH. Gaps exist between genome sequencing and metabolic assessments and lead to misinterpretations of the complicated symptoms of PH. Here, we report a rare case ... Read more >>

World J Clin Cases (World Journal of Clinical Cases)
[2020, 8(6):1137-1141]

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Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.

H A Haijes, J J M Jans, M van der Ham, P M van Hasselt, N M Verhoeven-Duif,

BACKGROUND:Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients over time, to improve insight in which biochemical processes are at play during AMD. METHODS:Longitudinal data from clinical chemistry analyses and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):68]

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Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.

Marco Spada, Francesco Porta, Dorico Righi, Carlo Gazzera, Francesco Tandoi, Ivana Ferrero, Franca Fagioli, Maria Beatriz Herrera Sanchez, Pier Luigi Calvo, Elisa Biamino, Stefania Bruno, Monica Gunetti, Cristina Contursi, Carola Lauritano, Alessandra Conio, Antonio Amoroso, Mauro Salizzoni, Lorenzo Silengo, Giovanni Camussi, Renato Romagnoli,

Previous studies have shown that human liver stem-like cells (HLSCs) may undergo differentiation in vitro into urea producing hepatocytes and in vivo may sustain liver function in models of experimentally induced acute liver injury. The aim of this study was to assess the safety of HLSCs intrahepatic administration in inherited ... Read more >>

Stem Cell Rev Rep (Stem cell reviews and reports)
[2020, 16(1):186-197]

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Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia.

Laurie E Bernstein, Casey Burns, Morgan Drumm, Sommer Gaughan, Melissa Sailer, Peter R Baker,

BACKGROUND:Methylmalonic acidemia (MMA) is an autosomal recessive disorder treated with precursor-free medical food while limiting natural protein. This retrospective chart review was to determine if there was a relationship between medical food, valine (VAL) and/or isoleucine (ILE) supplementation, total protein intake, and plasma amino acid profiles. Methods: A chart review, ... Read more >>

Nutrients (Nutrients)
[2020, 12(2):]

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Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi,

BACKGROUND:Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this disorder, leading to a wide range of clinical manifestations varying from no signs or symptoms to severe lethargy ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):22]

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Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu,

BACKGROUND:Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum of the MMACHC gene causing cblC varies among populations. The mutation ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, :e1221]

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Ethnic Variability in Newborn Metabolic Screening Markers Associated with False-Positive Outcomes.

Gang Peng, Yishuo Tang, Neeru Gandotra, Gregory M Enns, Tina M Cowan, Hongyu Zhao, Curt Scharfe,

Newborn screening (NBS) programs utilize information on a variety of clinical variables such as gestational age, sex and birth weight to reduce false-positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen-negative singleton babies ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, :]

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Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene.

Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi Liu,

Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the ... Read more >>

Stem Cell Res (Stem cell research)
[2020, 43:101709]

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Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.

Sofiya Gancheva, Daria Caspari, Alessandra Bierwagen, Tomas Jelenik, Sonia Caprio, Nicola Santoro, Maik Rothe, Daniel F Markgraf, Diran Herebian, Jong-Hee Hwang, Soner ├ľner-Sieben, Jasmin Mennenga, Giovanni Pacini, Eva Thimm, Andrea Schlune, Thomas Meissner, Stephan Vom Dahl, Dirk Klee, Ertan Mayatepek, Michael Roden, Regina Ensenauer,

Classical organic acidemias (OAs) result from defective mitochondrial catabolism of branched-chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether genetically impaired function of mitochondrial BCAA catabolism associates with cardiometabolic risk factors, altered liver and muscle energy metabolism, and IR. ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, :]

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[Analysis of 12 cases with methylmalonicacidemia cblA type].

Huishu E, Lianshu Han, Jun Ye, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Wang, Jianguo Wang, Wenjun Ji, Ting Chen, Feng Xu, Xuefan Gu,

OBJECTIVE:To explore the clinical feature, genetic variant and clinical outcome of patients with cblA-type methylmalonic acidemia (MMA). METHODS:Clinical manifestations, therapeutic schedule and prognosis of 12 patients with cblA type MMA were analyzed. MMAA gene variants were analyzed for all patients and their parents. RESULTS:Vomiting, dyspnea and drowsiness were the major ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(2):101-105]

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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Hanneke A Haijes, Femke Molema, Mirjam Langeveld, Mirian C Janssen, Annet M Bosch, Francjan van Spronsen, Margot F Mulder, Nanda M Verhoeven-Duif, Judith J M Jans, Ans T van der Ploeg, Margreet A Wagenmakers, M Estela Rubio-Gozalbo, Martijn C G J Brouwers, Maaike C de Vries, Janneke G Langendonk, Monique Williams, Peter M van Hasselt,

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, :]

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[Clinical and variant analysis of 15 patients with methylmalonic acidemia].

Hui Xiong, Wenlin Deng, Lanying Guo, Congcong Shi, Xin Xiao, Hu Hao,

OBJECTIVE:To report on clinical characteristics and genetic findings in 15 Chinese patients with methylmalonic acidemia (MMA). METHODS:For the 15 MMA patients detected by tandem mass spectrometry, genetic analysis was carried out in twelve pedigrees. Clinical characteristics, genetic finding, treatment and outcomes were retrospectively analyzed. RESULTS:The main features of the patients ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2019, 36(12):1158-1162]

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Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.

Femke Molema, Monique Williams, Janneke Langendonk, Sarwa Darwish-Murad, Jacqueline van de Wetering, Ed Jacobs, Willem Onkenhout, Esther Brusse, Anke van der Eerden, Margreet Wagenmakers,

Introduction:New neurological symptoms in methylmalonic acidemia (MMA) patients after liver and/or kidney transplantation (LKT) are often described as metabolic stroke-like-events. Since calcineurin inhibitors (CNIs) are a well-known cause of new neurological symptoms in non-MMA transplanted patients, we investigated the incidence of CNI-induced neurotoxicity including posterior reversible encephalopathy syndrome (PRES) in ... Read more >>

JIMD Rep (JIMD reports)
[2020, 51(1):89-104]

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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Jennifer L Sloan, Nathan P Achilly, Madeline L Arnold, Jerrel L Catlett, Trevor Blake, Kevin Bishop, Marypat Jones, Ursula Harper, Milton A English, Stacie Anderson, Niraj S Trivedi, Abdel Elkahloun, Victoria Hoffmann, Brian P Brooks, Raman Sood, Charles P Venditti,

Cobalamin C deficiency (cblC), the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is characterized by a failure to metabolize cobalamin into adenosyl- and methylcobalamin, which results in the ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, :]

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The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Bin Guo, Linfeng Yang, Xue Li, Xiangyu Liu, Xinhong Wei, Lingfei Guo,

PURPOSE:We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe ventricular dilatation, follow-up magnetic resonance imaging (MRI) findings from one year later, and the clinical manifestations, neuropsychological scores, genetic test results, urine and blood laboratory results and evolution of ... Read more >>

Brain Dev. (Brain & development)
[2020, 42(4):357-362]

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Reducing False-Positive Results in Newborn Screening Using Machine Learning.

Gang Peng, Yishuo Tang, Tina M Cowan, Gregory M Enns, Hongyu Zhao, Curt Scharfe,

Newborn screening (NBS) for inborn metabolic disorders is a highly successful public health program that by design is accompanied by false-positive results. Here we trained a Random Forest machine learning classifier on screening data to improve prediction of true and false positives. Data included 39 metabolic analytes detected by tandem ... Read more >>

Int J Neonatal Screen (International journal of neonatal screening)
[2020, 6(1):]

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Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases.

Ya-Nan Zhang, Ya-Lei Pi, Xue Yan, Yu-Qian Li, Zhan-Jiang Qi, Hui-Feng Zhang,

This study aims to improve our understanding of methylmalonic acidemia (MMA) complicated by homocystinuria disease by analyzing the clinical characteristics, treatment response and prognosis of three patients. Hyperhomocysteinemia and developmental retardation were present in all patients, epilepsy was present in one patient, and hemolytic uremic syndrome was present in one ... Read more >>

Adv Ther (Advances in therapy)
[2020, 37(1):630-636]

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Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.

Erica L Wright, Peter R Baker,

PURPOSE:Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2020, 105(3):]

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Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.

Min Chen, Hu Hao, Hui Xiong, Yao Cai, Fei Ma, Congcong Shi, Xin Xiao, Sitao Li,

BACKGROUND:Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the metabolism of organic acids. METHODS:Here, we report the case of a patient who developed acute metabolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization. RESULTS:Further examination revealed a homozygous pathogenic variant in the MMAA gene ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(1):e1063]

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A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.

Lulu Kang, Yupeng Liu, Ming Shen, Yi Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yao Zhang, Hui Dong, Xueqin Liu, Hui Yan, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Huifeng Zhang, Liying Sun, Zhijun Zhu, Desheng Liang, Yanling Yang,

Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study aimed to characterise the genotypic and phenotypic variabilities, and the molecular epidemiology of Chinese patients with isolated MMA. Patients (n = 301) with isolated MMA were diagnosed by clinical examination, biochemical assays, and genetic analysis. Fifty-eight patients ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, :]

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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Nishitha R Pillai, Bridget M Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J Shayota, Claudia Soler-Alfonso, Hari Priya Tunuguntala, John Goss, William Craigen, Fernando Scaglia, V Reid Sutton, Ryan Wallace Himes, Lindsay C Burrage,

BACKGROUND:Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2019, 128(4):431-443]

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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

William B Hannah, Katherine J Dempsey, Lori-Anne P Schillaci, Michael Zacharias, Shawn E McCandless, Anthony Wynshaw-Boris, Laura L Konczal, Jirair K Bedoyan,

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100537]

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Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.

C Philipponnet, J Desenclos, M Brailova, J Aniort, J L Kemeny, C Deville, V Fremeaux-Bacchi, B Souweine, A E Heng,

BACKGROUND:Thrombotic microangiopathy (TMA) syndromes are characterized by the association of hemolytic anemia, thrombocytopenia and organ injury due to arteriolar and capillary thrombosis. CASE PRESENTATION:We report the first case of adult onset cobalamin C (Cbl C) disease associated with anti-factor H antibody-associated hemolytic uremic syndrome (HUS). A 19-year-old woman was admitted ... Read more >>

BMC Nephrol (BMC nephrology)
[2020, 21(1):96]

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High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

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,

Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of presentation. Individuals with late-onset cblC may be asymptomatic until manifesting neuropsychiatric symptoms, thromboembolic events, and renal disease. ... Read more >>

JIMD Rep (JIMD reports)
[2020, 51(1):17-24]

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Etiology of liver dysfunction after liver transplantation in children with metabolic disorders.

Rie Irie, Atsuko Nakazawa, Seisuke Sakamoto, Masahiro Takeda, Yusuke Yanagi, Seiichi Shimizu, Hajime Uchida, Akinari Fukuda, Reiko Horikawa, Mureo Kasahara,

AIM:It has been reported that the long-term outcome for children with metabolic disorders after liver transplantation (LT) is excellent. However, there are several reports citing LT patients with metabolic disorders developing liver dysfunction early after LT. We examined the pathogenesis of liver dysfunction observed after LT in recipients with metabolic ... Read more >>

Hepatol. Res. (Hepatology research : the official journal of the Japan Society of Hepatology)
[2020, :]

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