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methylmalonic acidemia

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https://www.readbyqxmd.com/read/27804229/pulmonary-artery-hypertension-in-methylmalonic-acidemia
#1
Jun Kido, Hiroshi Mitsubuchi, Mina Sakanashi, Junichi Matsubara, Shirou Matsumoto, Rieko Sakamoto, Fumio Endo, Kimitoshi Nakamura
Methylmalonic acidemia (MMA) is an autosomal recessive disorder that can be classified into two types: (1) vitamin B12-responsive and (2) vitamin B12-non-responsive. In MMA cases with long-term survival, renal failure is often a problem, and timing for kidney transplantation for MMA is controversial. We encountered a vitamin B12-non-responsive MMA case for which regular hemodialysis for renal failure was initiated; the patient was 16 years old when she first received regular hemodialysis and 35 years old when she developed pulmonary artery hypertension (PAH)...
November 1, 2016: Hemodialysis International
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#2
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27751230/-multisystem-damage-associated-with-methylmalonic-acidemia-in-9-children
#3
Yue Liu, Hua Wang, Ya-Li Wang
No abstract text is available yet for this article.
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27748010/renal-cell-carcinoma-harboring-somatic-tsc2-mutations-in-a-child-with-methylmalonic-acidemia
#4
Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parsons
Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence...
October 17, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27699154/methylmalonyl-coa-epimerase-deficiency-a-new-case-with-an-acute-metabolic-presentation-and-an-intronic-splicing-mutation-in-the-mcee-gene
#5
Paula J Waters, Fanny Thuriot, Joe T R Clarke, Serge Gravel, David Watkins, David S Rosenblatt, Sébastien Lévesque
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this rare condition have been incompletely defined. We now describe a patient who presented acutely at 5 years of age with vomiting, dehydration, confusion, severe metabolic acidosis and mild hyperammonemia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27670840/improvement-in-the-prognosis-and-development-of-patients-with-methylmalonic-acidemia-after-living-donor-liver-transplant
#6
Rieko Sakamoto, Kimitoshi Nakamura, Jun Kido, Shiro Matsumoto, Hiroshi Mitsubuchi, Yukihiro Inomata, Fumio Endo
Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased...
September 26, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27536704/development-and-validation-of-a-gc-fid-method-for-diagnosis-of-methylmalonic-acidemia
#7
Fatemeh Keyfi, Abdolreza Varasteh
BACKGROUND: Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromatography is the most commonly-used technology to separate and identify these metabolites. In this report the analytical conditions for the determination of methylmalonic acid using a gas chromatography/flame ionization detector (GC-FID) are studied with the aim to establish a method to analyze organic acids in human urine...
April 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27492701/isolated-methylmalonic-acidemia-a-case-report
#8
Tarik Es Sadki, Stéphanie Badiou, Mathilde Boubal, Julien Baleine, Victor Sieso, Catherine Vallat, Jean-Paul Cristol, Christine Vianey-Saban, Gilles Cambonie
Isolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation. These symptoms do not respond to the administration of vitamin B12. We report a case of a ten-months-old infant to whom the diagnosis was suspected in the presence of a metabolic acidosis, hyperammonemia, without hepatic impairment and ketosis...
August 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27484306/expanding-the-phenotypic-spectrum-of-succinyl-coa-ligase-deficiency-through-functional-validation-of-a-new-suclg1-variant
#9
Taraka R Donti, Ruchi Masand, Daryl A Scott, William J Craigen, Brett H Graham
Deficiency of the TCA cycle enzyme Succinyl-CoA Synthetase/Ligase (SCS), due to pathogenic variants in subunits encoded by SUCLG1 and SUCLA2, causes mitochondrial encephalomyopathy, methylmalonic acidemia, and mitochondrial DNA (mtDNA) depletion. In this study, we report an 11year old patient who presented with truncal ataxia, chorea, hypotonia, bilateral sensorineural hearing loss and preserved cognition. Whole exome sequencing identified a heterozygous known pathogenic variant and a heterozygous novel missense variant of uncertain clinical significance (VUS) in SUCLG1...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27403441/mass-spectrometry-based-metabolomic-and-proteomic-strategies-in-organic-acidemias
#10
REVIEW
Esther Imperlini, Lucia Santorelli, Stefania Orrù, Emanuela Scolamiero, Margherita Ruoppolo, Marianna Caterino
Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly diagnosed and treated, whereas, in others cases, such as propionate metabolism-related OAs (propionic acidemia, PA; methylmalonic acidemia, MMA), neither diet, vitamin therapy, nor liver transplantation appears to prevent multiorgan impairment...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27383490/report-report-on-the-heterozygosis-mutations-of-c-567dupt-p-ile190tyrfs-13-of-mmachc-gene-in-1-child-patient-with-methylmalonic-academia
#11
Kai Liu, Guohong Chen, Yanli Ma, Yixin Xian, Zhang Zhang
This article reported 1 child patient with early-onset methylmalonic acidemia and proceeded gene detection for the child and his parents. The detecting results showed that there were respectively heterozygosis mutations of c.609G>A,p.(Trp203*) and c.567dupT,p.(Ile190Tyrfs*13) in the MMA CHC gene of child's parents, and all of the diseases were entailed to the child and caused the paroxysm of child. Consequently, the c.567dupT,p.(Ile190Tyrfs*13) was considered as a kind of new gene mutation. After being treated with vitamin B12 and levocamitine, the clinical symptoms and organic acid content of hematuresis of this child patient had taken a turn for the better...
May 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/27383050/metabolic-network-rewiring-of-propionate-flux-compensates-vitamin-b12-deficiency-in-c-elegans
#12
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
Metabolic network rewiring is the rerouting of metabolism through the use of alternate enzymes to adjust pathway flux and accomplish specific anabolic or catabolic objectives. Here, we report the first characterization of two parallel pathways for the breakdown of the short chain fatty acid propionate in Caenorhabditis elegans. 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...
2016: ELife
https://www.readbyqxmd.com/read/27221384/perioperative-management-of-living-donor-liver-transplantation-for-methylmalonic-acidemia
#13
Chiaki Baba, Mureo Kasahara, Yasuhiro Kogure, Shugo Kasuya, Sukeyuki Ito, Takako Tamura, Akinari Fukuda, Reiko Horikawa, Yasuyuki Suzuki
Methymalonic acidemia (MMA) is a hereditary metabolic disorder characterized by a defect of the methylmalonyl-CoA mutase that breaks down propionate. The efficacy of liver transplantation for MMA was recently reported. However, the anesthetic management of liver transplant for MMA is not clear. The aim of this article is to describe an anesthetic management algorithm of liver transplant for MMA by reviewing our cases of liver transplant for MMA. Fourteen patients received a liver transplant; three cases showed metabolic decompensation during the transplant and two of the patients died...
July 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27216769/quantification-of-2-methylcitric-acid-in-dried-blood-spots-improves-newborn-screening-for-propionic-and-methylmalonic-acidemias
#14
Osama Y Al-Dirbashi, Nathan McIntosh, Pranesh Chakraborty
BACKGROUND: Newborn screening for propionic acidemia and methylmalonic acidurias using the marker propionylcarnitine (C3) is neither sensitive nor specific. Using C3 to acetylcarnitine (C3/C2) ratio, together with conservative C3 cut-offs, can improve screening sensitivity, but the false positive rate remains high. Incorporating the marker 2-methylcitric acid has been suggested, to improve the positive predictive value for these disorders without compromising the sensitivity. METHODS: Between July 2011 and December 2012 at the Newborn Screening Ontario laboratory, all neonatal dried blood spot samples that were reported as screen positive for propionic acidemia or methylmalonic acidurias based on elevated C3 and C3/C2 ratio were analyzed for 2-methylcitric acid, using liquid chromatography tandem mass spectrometry...
May 22, 2016: Journal of Medical Screening
https://www.readbyqxmd.com/read/27208560/quantifying-mma-by-sle-lc-ms-ms-unexpected-challenges-in-assay-development
#15
Sheng-Ying Lo, Cindy Gordon, Katerina Sadilkova, Rhona M Jack, Jane A Dickerson
OBJECTIVES: Analysis of serum/plasma methylmalonic acid (MMA) is important for the diagnosis and management of methylmalonic acidemia in pediatric populations. This work focuses on developing and validating a liquid chromatography tandem mass spectrometry (LC-MS/MS) method to monitor methylmalonic acidemia using a simple method preparation. DESIGN AND METHODS: MMA and stable isotope labeled d3-MMA was extracted using supported liquid extraction (SLE). Assay imprecision, bias, linearity, recovery and carryover were determined...
September 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27060300/-identification-of-two-novel-mutations-of-mut-gene-in-a-chinese-family-affected-with-isolated-methylmalonic-acidemia
#16
Bobo Xie, Jingsi Luo, Xin Fan, Rongyu Chen, Jin Wang, Shujie Zhang, Wang Li, Shaoke Chen
OBJECTIVE: To explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA). METHODS: Potential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software. RESULTS: Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c...
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27060059/pediatric-combined-liver-kidney-transplantation-a-single-center-experience-of-18-cases
#17
Rémi Duclaux-Loras, Justine Bacchetta, Julien Berthiller, Christine Rivet, Delphine Demède, Etienne Javouhey, Rémi Dubois, Frédérique Dijoud, Alain Lachaux, Lionel Badet, Olivier Boillot, Pierre Cochat
BACKGROUND: Experience in combined liver-kidney transplantation (CLKT) in children is limited. METHODS: We conducted a retrospective study of all pediatric CLKTs performed at our medical institution between 1992 and 2013. RESULTS: We identified 18 pediatric patients (9 girls) who had undergone CLKT at our institution during the study period. The median age [range] and body weight [range] of this patient group was 3.6 [1.0-18.6] years and 13 [10-40] kg, respectively; 11 patients weighed <15 kg at the time of CLKT...
September 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26979128/spectrum-of-ocular-manifestations-in-cobalamin-c-and-cobalamin-a-types-of-methylmalonic-acidemia
#18
Cristy A Ku, Jacqueline K Ng, Daniel J Karr, Leah Reznick, Cary O Harding, Richard G Weleber, Mark E Pennesi
BACKGROUND: Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism. Reported ocular findings associated with cblC have been maculopathy, pigmentary retinopathy, and optic nerve atrophy. Cobalamin A disease (cblA) which causes an isolated methylmalonic acidemia without homocystinuria is rarer than cblC. This is the first detailed report of the ocular findings associated with cblA. We also describe the spectrum of ocular findings in our cblC patients...
March 15, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26952825/juvenile-gout-in-methylmalonic-acidemia
#19
Sirirat Charuvanij, Anirut Pattaragarn, Wanee Wisuthsarewong, Nithiwat Vatanavicharn
Methylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl-CoA mutase or a defect in adenosyl-cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia. Symptomatic hyperuricemia or gout, however, has not been reported in MMA. We herein report two pediatric cases of MMA caused by MMAB mutations (cblB defect) with renal tubular acidosis, chronic kidney disease, hyperuricemia, and gout...
June 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/26940724/a-neuronal-disruption-in-redox-homeostasis-elicited-by-ammonia-alters-the-glycine-glutamate-gaba-cycle-and-contributes-to-mma-induced-excitability
#20
Luiz Fernando Freire Royes, Patrícia Gabbi, Leandro Rodrigo Ribeiro, Iuri Domingues Della-Pace, Fernanda Silva Rodrigues, Ana Paula de Oliveira Ferreira, Mauro Eduardo Porto da Silveira Junior, Luís Roberto Hart da Silva, Alan Barroso Araújo Grisólia, Danielle Valente Braga, Fernando Dobrachinski, Anderson Manoel Herculano Oliveira da Silva, Félix Alexandre Antunes Soares, Sara Marchesan, Ana Flavia Furian, Mauro Schneider Oliveira, Michele Rechia Fighera
Hyperammonemia is a common finding in children with methylmalonic acidemia. However, its contribution to methylmalonate-induced excitotoxicty is poorly understood. The aim of this study was to evaluate the mechanisms by which ammonia influences in the neurotoxicity induced by methylmalonate (MMA) in mice. The effects of ammonium chloride (NH4Cl 3, 6, and 12 mmol/kg; s.c.) on electroencephalographic (EEG) and behavioral convulsions induced by MMA (0.3, 0.66, and 1 µmol/2 µL, i.c.v.) were observed in mice...
June 2016: Amino Acids
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