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https://www.readbyqxmd.com/read/29764289/divergent-induction-of-branched-chain-aminotransferases-and-phosphorylation-of-branched-chain-keto-acid-dehydrogenase-is-a-potential-mechanism-coupling-bcka-mediated-astrocyte-activation-to-bcaa-depletion-mediated-cognitive-deficit-after-tbi
#1
Guoqiang Xing, Ming Ren, Ajay Verma
Deficient branched chain amino acids (BCAAs) are implicated in cognitive dysfunction after traumatic brain injury (TBI). The mechanism remains unknown. BCAAs are catabolized by neuron-specific cytosolic and astrocyte-specific mitochondrial branched chain aminotransferases (BCATc, BCATm) to generate glutamate and branched-chain keto-acids (BCKAs) that are metabolized via the mitochondrial branched-chain-keto-acid dehydrogenase (BCKD) whose activity is regulated by its phosphorylation state. BCKD phosphorylation by BCKD kinase (BCKDK) inactivates BCKD and cause neuro-cognitive dysfunction, whereas de-phosphorylation by specific phosphatase restores BCKD activity...
May 15, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29755574/branched-chain-amino-acids-in-health-and-disease-metabolism-alterations-in-blood-plasma-and-as-supplements
#2
REVIEW
Milan Holeček
Branched-chain amino acids (BCAAs; valine, leucine, and isoleucine) are essential amino acids with protein anabolic properties, which have been studied in a number of muscle wasting disorders for more than 50 years. However, until today, there is no consensus regarding their therapeutic effectiveness. In the article is demonstrated that the crucial roles in BCAA metabolism play: (i) skeletal muscle as the initial site of BCAA catabolism accompanied with the release of alanine and glutamine to the blood; (ii) activity of branched-chain keto acid dehydrogenase (BCKD); and (iii) amination of branched-chain keto acids (BCKAs) to BCAAs...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/29753318/successful-pregnancy-in-maple-syrup-urine-disease-a-case-report-and-review-of-the-literature
#3
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only few cases of pregnancies in MSUD mothers have been reported so far. CASE PRESENTATION: We present the favorable outcome of a pregnancy in a woman with classical MSUD...
May 12, 2018: Nutrition Journal
https://www.readbyqxmd.com/read/29744745/imaging-in-maple-syrup-urine-disease
#4
Tanay Shah, Sunita Purohit, Mrudang Raval
No abstract text is available yet for this article.
May 9, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29740775/evaluation-of-plasma-biomarkers-of-inflammation-in-patients-with-maple-syrup-urine-disease
#5
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S Camelo, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F V de Medeiros, Ida Vanessa D Schwartz, Emilio Luiz Streck
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules. Here we performed a case-control study, including 12 treated-MSUD patients, in order to investigate the plasmatic biomarkers of inflammation, to help to establish a possible relationship between these biomarkers and the disease...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29740478/a-novel-whole-gene-deletion-of-bckdhb-by-alu-mediated-non-allelic-recombination-in-a-chinese-patient-with-maple-syrup-urine-disease
#6
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT , and DLD genes. Among the wide range of disease-causing mutations in BCKDHB , only one large deletion has been associated with MSUD. Compound heterozygous mutations in BCKDHB were identified in a Chinese patient with typical MSUD using next-generation sequencing, quantitative PCR, and array comparative genomic hybridization. One allele presented a missense mutation (c.391G > A), while the other allele had a large deletion; both were inherited from the patient's unaffected parents...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29708521/ethical-analysis-and-policy-recommendations-regarding-domino-liver-transplantation
#7
David Schenck, George V Mazariegos, J Richard Thistlethwaite, Lainie Friedman Ross
Due to the widening gap between supply and demand, patients who need a liver transplant due to metabolic disease may be asked to serve as domino liver donors-to have their native liver transplanted into another candidate. We here analyze the ethical problems surrounding informed consent for the implant and explant procedures in transplant candidates who will serve as domino donors, using the case of a child with maple syrup urine disease. We discuss the need for 2 distinct consent processes separated in time to ensure that potential domino donors (or their surrogates) give a truly voluntary consent...
May 2018: Transplantation
https://www.readbyqxmd.com/read/29703985/application-of-droplet-digital-pcr-in-the-analysis-of-genome-integration-and-organization-of-the-transgene-in-bac-transgenic-mice
#8
Ayumi Nakagaki, Asuka Urakawa, Shiori Hirano, Takeru Anami, Tatsuya Kishino
Transgenic (Tg) mice containing bacterial artificial chromosome (BAC) DNA are widely used for gene expression analysis and gene therapy models because BAC transgenes provide gene expression at physiological levels with the same developmental timing as endogenous genes. To ensure correct interpretation of transgene functions, investigation of the genomic organisation and integration of the BAC transgene is required. Here, we describe a reliable method based on droplet digital PCR (ddPCR) and inverse PCR to estimate copy number, genomic organisation and insertion sites of BAC transgenes in the mouse genome...
April 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29681447/acute-pancreatitis-in-a-patient-with-maple-syrup-urine-disease-a-management-paradox
#9
Nina B Gold, Jennifer A Blumenthal, Ann E Wessel, Deborah R Stein, Adam Scott, Victor L Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine Peeler, Wen-Hann Tan
Maple syrup urine disease (MSUD) is an inborn error of metabolism that causes elevated leucine in the setting of acute illnesses. We describe an 8-year-old boy with MSUD who developed acute pancreatitis and subsequent leucinosis. This case highlights the complexities of fluid management in patients with MSUD.
April 19, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29673582/in-silico-prediction-of-the-pathogenic-effect-of-a-novel-variant-of-bckdha-leading-to-classical-maple-syrup-urine-disease-identified-using-clinical-exome-sequencing
#10
Cynthia Fernández-Lainez, Carmen Aláez-Verson, Isabel Ibarra-González, Sergio Enríquez-Flores, Karol Carrillo-Sanchez, Leonardo Flores-Lagunes, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
Maple syrup urine disease (MSUD) is a metabolic disorder caused by mutations in three of the branched-chain α-keto acid dehydrogenase complex (BCKDC) genes. Classical MSUD symptom can be observed immediately after birth and include ketoacidosis, irritability, lethargy, and coma, which can lead to death or irreversible neurodevelopmental delay in survivors. The molecular diagnosis of MSUD can be time-consuming and difficult to establish using conventional Sanger sequencing because it could be due to pathogenic variants of any of the BCKDC genes...
April 16, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29609056/smoking-cessation-treatment-outcomes-among-people-with-and-without-mental-and-substance-use-disorders-an-observational-real-world-study
#11
João Mauricio Castaldelli-Maia, Aline Rodrigues Loreto, Bruna Beatriz Sales Guimarães-Pereira, Carlos Felipe Cavalcanti Carvalho, Felipe Gil, Fernanda Piotto Frallonardo, Flávia Ismael, Arthur Guerra de Andrade, Antonio Ventriglio, Kimber P Richter, Dinesh Bhugra
BACKGROUND: There is a lack of studies evaluating smoking cessation treatment protocols which include people with and without mental and substance use disorders (MSUD), and which allows for individuals with MSUD undergoing their psychiatric treatment. METHODS: We compared treatment success between participants with (n = 277) and without (n = 419) MSUD among patients in a 6-week treatment provided by a Brazilian Psychosocial Care Center (CAPS) from 2007 to 2013...
March 30, 2018: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29542068/high-risk-stratified-neonatal-screening
#12
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29366676/two-novel-mutations-in-the-bckdhb-gene-that-cause-maple-syrup-urine-disease
#13
Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. Here, we describe the presenting symptoms, clinical course and gene mutation analysis of a Chinese boy with MSUD. METHODS: Plasma amino acid analysis was performed by tandem mass spectrometry and the levels of organic acids in urine were measured with gas chromatography-mass spectrometry...
January 6, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29307017/clinical-characteristics-and-mutation-analysis-of-five-chinese-patients-with-maple-syrup-urine-disease
#14
Xiaomei Li, Yali Yang, Qing Gao, Min Gao, Yvqiang Lv, Rui Dong, Yi Liu, Kaihui Zhang, Zhongtao Gai
Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD. Furthermore, more than 265 mutations have been identified as the cause across different populations worldwide...
January 6, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29306928/four-novel-mutations-of-the-bckdha-bckdhb-and-dbt-genes-in-iranian-patients-with-maple-syrup-urine-disease
#15
Monica Zeynalzadeh, Alireza Tafazoli, Azadeh Aarabi, Morteza Moghaddassian, Farah Ashrafzadeh, Massoud Houshmand, Negin Taghehchian, Mohammad Reza Abbaszadegan
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. The current study analyzed seven Iranian MSUD patients genetically and explored probable correlations between their genotype and phenotype. METHODS: The panel of genes, including BCKDHA, BCKDHB and DBT, was evaluated, using routine the polymerase chain reaction (PCR)-sequencing method...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29209542/skin-lesions-associated-with-nutritional-management-of-maple-syrup-urine-disease
#16
Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho
Introduction: Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency, respectively. Case Presentation: A 12-day-old male infant was presented with poor milk intake and lethargy. The diagnosis of MSUD was made based on clinical and biochemical data. Management and Outcome: Specific dietary restriction of BCAAs was given...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29095391/acute-illness-protocol-for-maple-syrup-urine-disease
#17
Lance H Rodan, Saud H Aldubayan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEMs) 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 up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physician, pediatrician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders...
January 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#18
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
April 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#19
Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000)...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29032949/correction-of-hyperleucinemia-in-msud-patients-on-leucine-free-dietary-therapy
#20
Anna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, Tina M Cowan
PURPOSE: Maple Syrup Urine Disease (MSUD) is a rare disorder of branched-chain amino acid catabolism associated with encephalopathy from accumulation of leucine. Leucine is closely monitored during normal growth and particularly during acute illness. As most hospitals do not have access to rapid plasma amino acid quantification, the initial management is often empirical. A model describing the reduction of plasma leucine in hyperleucinemic patients on leucine-free formula would help to guide management and optimize testing frequency...
December 2017: Molecular Genetics and Metabolism
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