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Maple syrup urine disorder

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https://www.readbyqxmd.com/read/29755574/branched-chain-amino-acids-in-health-and-disease-metabolism-alterations-in-blood-plasma-and-as-supplements
#1
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
#2
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/29740775/evaluation-of-plasma-biomarkers-of-inflammation-in-patients-with-maple-syrup-urine-disease
#3
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
#4
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/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
#5
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/29542068/high-risk-stratified-neonatal-screening
#6
(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
#7
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
#8
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
#9
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/29095391/acute-illness-protocol-for-maple-syrup-urine-disease
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#14
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28905140/long-term-metabolic-follow-up-and-clinical-outcome-of-35-patients-with-maple-syrup-urine-disease
#15
Marie-Thérèse Abi-Wardé, Célina Roda, Jean-Baptiste Arnoux, Aude Servais, Florence Habarou, Anais Brassier, Clément Pontoizeau, Valérie Barbier, Manuella Bayart, Virginie Leboeuf, Bernadette Chadefaux-Vekemans, Sandrine Dubois, Murielle Assoun, Claire Belloche, Jean-Meidi Alili, Marie-Caroline Husson, Fabrice Lesage, Laurent Dupic, Benoit Theuil, Chris Ottolenghi, Pascale de Lonlay
BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a cohort of patients with neonatal-onset MSUD. METHODS: Data on academic achievement, psychological care, family involvement, and biochemical parameters were collected from the medical records of neonatal MSUD patients treated at Necker Hospital (Paris) between 1964 and 2013...
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#16
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28685505/expanded-carrier-screening-for-monogenic-disorders-where-are-we-now
#17
Davit Chokoshvili, Danya Vears, Pascal Borry
BACKGROUND: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests. METHODS: To identify relevant ECS providers, we employed a multi-step approach, which included online searching, review of the recent literature, and consultations with researchers familiar with the current landscape of ECS...
January 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621016/acute-effects-of-phenylbutyrate-on-glutamine-branched-chain-amino-acid-and-protein-metabolism-in-skeletal-muscles-of-rats
#18
Milan Holecek, Melita Vodenicarovova, Pavel Siman
Phenylbutyrate (PB) acts as chemical chaperone and histone deacetylase inhibitor, which is used to decrease ammonia in urea cycle disorders and has been investigated for use in the treatment of a number of lethal illnesses. We performed in vivo and in vitro experiments to examine the effects of PB on glutamine (GLN), branched-chain amino acid (BCAA; valine, leucine and isoleucine) and protein metabolism in rats. In the first study, animals were sacrificed one hour after three injections of PB (300mg/kg b...
June 2017: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/28599741/implications-of-maple-syrup-urine-disease-in-newborns
#19
Pamela Harris-Haman, Lenora Brown, Susan Massey, Sivaranjani Ramamoorthy
Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body's ability to metabolize amino acids. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. With proper screening, along with genetic counseling, nutritional counseling, primary care follow-up, and ongoing monitoring, newborns with MSUD can typically go on to live healthful lives...
June 2017: Nursing for Women's Health
https://www.readbyqxmd.com/read/28589054/a-patient-with-msud-acute-management-with-sodium-phenylacetate-sodium-benzoate-and-sodium-phenylbutyrate
#20
Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker
In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases...
2017: Case Reports in Pediatrics
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