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methylmalonic acidemia

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https://www.readbyqxmd.com/read/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#1
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
January 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29262333/systemic-messenger-rna-therapy-as-a-treatment-for-methylmalonic-acidemia
#2
Ding An, Jessica L Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E Murphy-Benenato, E Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M Lukacs, Randy J Chandler, Lin T Guey, Charles P Venditti, Paolo G V Martini
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although promising, AAV gene therapy can be limited by pre-existing immunity and has been associated with genotoxicity in mice. To develop a new class of therapy for MMA, we generated a pseudoU-modified codon-optimized mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most frequently mutated in MMA, and encapsulated it into biodegradable lipid nanoparticles (LNPs)...
December 19, 2017: Cell Reports
https://www.readbyqxmd.com/read/29237523/-clinical-analysis-of-15%C3%A2-851-children-at-risk-of-inherited-metabolic-diseases
#3
Shu-Xiang Lin, Jian-Bo Shu, Chao Wang, Rui Pan, Ying-Tao Meng, Chun-Hua Zhang, Bi-Li Zhang, Dan Wang, Yu-Qin Zhang
OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#4
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#5
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#6
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#7
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28915261/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
#8
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: 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). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#9
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#10
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28395089/methylmalonate-induces-inflammatory-and-apoptotic-potential-a-link-to-glial-activation-and-neurological-dysfunction
#11
Patricia Gabbi, Leandro Rodrigo Ribeiro, Gutierres Jessié Martins, Alexandra Seide Cardoso, Fernanda Haupental, Fernanda Silva Rodrigues, Alencar Kolinski Machado, Juliana Sperotto Brum, M M Medeiros Frescura Duarte, Maria Rosa Chitolina Schetinger, Ivana Beatrice Mânica da Cruz, Ana Flávia Furian, Mauro Schneider Oliveira, Adair Roberto Soares Dos Santos, Luiz Fernando Freire Royes, Michele Rechia Fighera, Mayara Lutchemeyer de Freitas
Methylmalonic acid (MMA) accumulates in tissues in methylmalonic acidemia, a heterogeneous group of inherited childhood diseases characterized by neurological dysfunction, oxidative stress and neuroinflammation; it is associated with degeneration of striatal neurons and cerebral cortical atrophy. It is presently unknown, however, whether transient exposure to MMA in the neonatal period is sufficient to trigger inflammatory and apoptotic processes that lead to brain structural damage. Here, newborn mice were given a single intracerebroventricular dose of MMA at 12 hours after birth...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28223158/aminoguanidine-alleviated-mma-induced-impairment-of-cognitive-ability-in-rats-by-downregulating-oxidative-stress-and-inflammatory-reaction
#12
Qiliang Li, Wenqi Song, Ze Tian, Peichang Wang
Methylmalonic acidemia (MMA) is the most common organic acidemia in childhood. Many "treated" patients continued to display various degrees of mental retardation and psychomotor delay, which could be caused by brain damage from elevated oxidative stress. Aminoguanidine (AG), a synthetic antioxidant, was tested in a MMA rat model for its potential therapeutic effects on memory impairment. The effects of AG on MMA-induced cognitive impairment in Wistar rats were evaluated with Morris Water Maze. The levels of nerve cell apoptosis and microglial activation were investigated to illustrate the mechanisms of the improvement of cognition with AG treatment in MMA rats...
February 13, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28153297/detection-of-inborn-errors-of-metabolism-utilizing-gc-ms-urinary-metabolomics-coupled-with-a-modified-orthogonal-partial-least-squares-discriminant-analysis
#13
Qin Yang, Shan-Shan Lin, Jiang-Tao Yang, Li-Juan Tang, Ru-Qin Yu
GC-MS urinary metabolomic analysis coupled with chemometrics is used to detect inborn errors of metabolism (IEMs), which are genetic disorders causing severe mental and physical debility and even sudden infant death. Orthogonal partial least squares discriminant analysis (OPLS-DA) is an efficient multivariate statistical method that conducts data analysis of metabolite profiling. However, performance degradation is often observed for OPLS-DA due to increasing size and complexity of metabolomic datasets. In this study, hybrid particle swarm optimization (HPSO) is employed to modify OPLS-DA by simultaneously selecting the optimal variable subset, associated weights and the appropriate number of orthogonal components, constructing a new algorithm called HPSO-OPLSDA...
April 1, 2017: Talanta
https://www.readbyqxmd.com/read/28141776/acute-illness-protocol-for-organic-acidemias-methylmalonic-acidemia-and-propionic-acidemia
#14
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physicians, pediatricians, internists, and critical care physicians as well as biochemical geneticists to be familiar with the initial assessment and management of patients with these disorders...
February 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28101778/eight-novel-mut-loss-of-function-missense-mutations-in-chinese-patients-with-isolated-methylmalonic-academia
#15
Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu
BACKGROUND: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. METHODS: Eight Chinese patients were identified with novel mutations. Plasmids carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional analyses...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28070528/methylmalonic-acidemia-diagnosis-by-laboratory-methods
#16
Fatemeh Keyfi, Saeed Talebi, Abdol-Reza Varasteh
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis...
October 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27804229/pulmonary-artery-hypertension-in-methylmalonic-acidemia
#17
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)...
April 2017: 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
#18
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...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27751230/-multisystem-damage-associated-with-methylmalonic-acidemia-in-9-children
#19
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
#20
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...
May 2017: Pediatric Blood & Cancer
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