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maple syrup urine disease

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https://www.readbyqxmd.com/read/28089725/high-concentration-of-branched-chain-amino-acids-promotes-oxidative-stress-inflammation-and-migration-of-human-peripheral-blood-mononuclear-cells-via-mtorc1-activation
#1
Olha Zhenyukh, Esther Civantos, Marta Ruiz-Ortega, María Soledad Sánchez, Clotilde Vázquez, Concepción Peiró, Jesús Egido, Sebastián Mas
Leucine, isoleucine and valine are essential aminoacids termed branched-chain amino acids (BCAA) due to its aliphatic side-chain. In several pathological and physiological conditions increased BCAA plasma concentrations have been described. Elevated BCAA levels predict insulin resistance development. Moreover, BCAA levels higher than 2mmol/L are neurotoxic by inducing microglial activation in maple syrup urine disease. However, there are no studies about the direct effects of BCAA in circulating cells. We have explored whether BCAA could promote oxidative stress and pro-inflammatory status in peripheral blood mononuclear cells (PBMCs) obtained from healthy donors...
January 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28018909/a-review-of-selected-genes-with-known-effects-on-performance-and-health-of-cattle
#2
REVIEW
Eduardo Casas, Marcus E Kehrli
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have been identified as a candidate for the condition will be included, and the genetic basis of the condition will be defined. Genes and genetic conditions included in this review are bovine leukocyte adhesion deficiency, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, citrullinemia, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, syndactyly, maple syrup urine disease, slick hair, Factor XI deficiency, and μ-Calpain...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/27974115/-maple-syrup-urine-disease-and-gene-mutations-in-twin-neonates
#3
Tao Li, Yu Wang, Cui Li, Wei-Wei Xu, Feng-Hai Niu, Di Zhang
OBJECTIVE: To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD. METHODS: The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD)...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27816400/-neonatal-presentation-of-maple-syrup-urine-disease
#4
L Cardoen, M Schiff, J Lambron, A Rega, A-L Virlouvet, V Biran, S Eleni Dit Trolli, M Elmaleh-Bergès, M Alison
No abstract text is available yet for this article.
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27815833/erratum-to-serum-markers-of-neurodegeneration-in-maple-syrup-urine-disease
#5
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, Joao Seda Neto, Tatiana Amorim, Ida Vanessa D Schwartz, Emilio L Streck
No abstract text is available yet for this article.
November 4, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#6
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/27761412/plasma-amino-acid-and-urine-organic-acid-profiles-of-filipino-patients-with-maple-syrup-urine-disease-msud-and-correlation-with-their-neurologic-features
#7
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27730080/demographic-and-clinical-characteristics-of-the-children-with-aminoacidopathy-in-isfahan-province-central-iran-in-2007-2015
#8
Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27716111/case-report-aqueous-and-vitreous-amino-acid-concentrations-in-a-patient-with-maple-syrup-urine-disease-operated-on-rhegmatogenous-retinal-detachment
#9
Menelaos G Kanakis, Helen Michelakakis, Petros Petrou, Chrysanthi Koutsandrea, Ilias Georgalas
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic disorder, affecting the metabolism of branched chain amino-acids (Valine, Leukine, Isoleukine). We present a rare case of rhegmatogenous retinal detachment (RRD) in a MSUD patient. CASE PRESENTATION: We performed amino acid analysis of aqueous humour, vitreous and serum samples obtained during surgery from a 24 year old female MSUD patient successfully operated on RRD. Serum values for a-amino-butyric acid, valine, isoleucine, leucine, tyrosine, phenylalanine, ornithine and histidine were low, while values for citrulline, methionine and lysine were borderline low, all attributed to the patient's special diet...
October 3, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27714667/challenges-in-the-management-of-patients-with-maple-syrup-urine-disease-diagnosed-by-newborn-screening-in-a-developing-country
#10
Leniza G De Castro-Hamoy, Mary Anne D Chiong, Sylvia C Estrada, Cynthia P Cordero
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. We described all patients with maple syrup urine disease patients diagnosed through newborn screening during its first 2 years of implementation and the challenges encountered during their medical management. There were 24 patients diagnosed with maple syrup urine disease for the 2-year period...
October 6, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27682710/co-existence-of-phenylketonuria-either-with-maple-syrup-urine-disease-or-sandhoff-disease-in-two-patients-from-iran-emphasizing-the-role-of-consanguinity
#11
Maryam Abiri, Saeed Talebi, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Sirous Zeinali
Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27660262/serum-markers-of-neurodegeneration-in-maple-syrup-urine-disease
#12
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuk, Gustavo C Ferreira, Joao Seda Neto, Tatiana Amorin, Ida Vanessa D Schwartz, Emilio L Streck
Maple syrup urine disease (MSUD) is an inherited disorder caused by deficient activity of the branched-chain α-keto acid dehydrogenase complex involved in the degradation pathway of branched-chain amino acids (BCAAs) and their respective α-keto-acids. Patients affected by MSUD present severe neurological symptoms and brain abnormalities, whose pathophysiology is poorly known. However, preclinical studies have suggested alterations in markers involved with neurodegeneration. Because there are no studies in the literature that report the neurodegenerative markers in MSUD patients, the present study evaluated neurodegenerative markers (brain-derived neurotrophic factor (BDNF), cathepsin D, neural cell adhesion molecule (NCAM), plasminogen activator inhibitor-1 total (PAI-1 (total)), platelet-derived growth factor AA (PDGF-AA), PDGF-AB/BB) in plasma from 10 MSUD patients during dietary treatment...
September 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27613073/-classical-organic-acidurias-diagnosis-and-pathogenesis
#13
Guglielmo Rd Villani, Giovanna Gallo, Emanuela Scolamiero, Francesco Salvatore, Margherita Ruoppolo
Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a transport protein involved in one of the several cellular metabolic pathways devoted to the catabolism of amino acids, carbohydrates or lipids. These deficiencies result in abnormal accumulation of organic acids in the body and their abnormal excretion in urine. More than 65 organic acidurias have been described; the incidence varies, individually, from 1 out of 10,000 to >1 out of 1000,000 live births. Collectively, their incidence approximates 1 out of 3000 live births...
September 9, 2016: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/27598852/screening-for-inherited-metabolic-diseases-using-gas-chromatography-tandem-mass-spectrometry-gc-ms-ms-in-sichuan-china
#14
Hong Wang, Xia Wang, Yingying Li, Wei Dai, Dongmei Jiang, Xiaodong Zhang, Yali Cui
The aim of this study was to retrospectively diagnose and confirm inherited metabolic diseases (IMD), from a small population of IMD high-risk patients, with the aid of gas chromatography-tandem mass spectrometry (GC-MS/MS), technologies yet to be popularized in Sichuan, China. Using GC-MS/MS coupled with clinical diagnosis, we retrospectively analyzed samples of dried blood spots and urine specimen from 183 IMD high-risk infant patients, who visited the West China Second Hospital of Sichuan University between June 2013 and October 2015...
September 6, 2016: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/27567652/isoleucine-deficiency-in-a-neonate-treated-for-maple-syrup-urine-disease-masquerading-as-acrodermatitis-enteropathica
#15
Benjamin Ross, Manish Kumar, Hema Srinivasan, Alka V Ekbote
BACKGROUND: Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies. CASE CHARACTERISTICS: We report a neonate who developed skin lesions due to isoleucine deficiency while using specialised formula. INTERVENTION/OUTCOME: Feeds were supplemented with expressed breast milk. This caused biochemical and clinical improvement with resolution of skin lesions...
August 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27544719/pilot-study-of-newborn-screening-of-inborn-error-of-metabolism-using-tandem-mass-spectrometry-in-malaysia-outcome-and-challenges
#16
Zabedah Md Yunus, Salina Abdul Rahman, Yew Sing Choy, Wee Teik Keng, Lock Hock Ngu
BACKGROUND: The aim of this study was to determine the feasibility of performing newborn screening (NBS) of inborn errors of metabolism (IEMs) using tandem mass spectrometry (TMS) and the impact on its detection rate in Malaysia. METHODS: During the study period between June 2006 and December 2008, 30,247 newborns from 11 major public hospitals in Malaysia were screened for 27 inborn errors of amino acid, organic acid and fatty acid metabolism by TMS. Dried blood spot (DBS) samples were collected between 24 h and 7 days with parental consent...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27535382/evaluation-of-dynamic-thiol-disulphide-homeostasis-as-a-novel-indicator-of-oxidative-stress-in-maple-syrup-urine-disease-patients-under-treatment
#17
Tanyel Zubarioglu, Ertugrul Kiykim, Mehmet Serif Cansever, Salim Neselioglu, Cigdem Aktuglu-Zeybek, Ozcan Erel
Maple syrup urine disease (MSUD) is a metabolic disorder that is caused by deficiency of branched-chain α-keto acid dehydrogenase complex. Although accumulation of toxic metabolites is associated with neurotoxicity, mechanisms underlying brain damage remain unclear. Aim of this study is to evaluate thiol/disulphide homeostasis as a novel indicator of oxidative stress in MSUD patients under treatment. Twenty patients with MSUD and 20 healthy individuals were included in study. All patients were under regular follow-up and had a good metabolic control...
August 18, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27513192/development-of-carrier-testing-for-common-inborn-errors-of-metabolism-in-the-wisconsin-plain-population
#18
Ashley Kuhl, Sandra van Calcar, Mei Baker, Christine M Seroogy, Gregory Rice, Jessica Scott Schwoerer
PURPOSE: This community project is an initiative through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA. METHODS: Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide targeted variant analysis of the common MSUD and PA pathogenic variants in this population through health-care provider distribution of blood spot testing kits...
August 11, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27510712/apoptotic-signaling-pathways-induced-by-acute-administration-of-branched-chain-amino-acids-in-an-animal-model-of-maple-syrup-urine-disease
#19
Thais C Vilela, Giselli Scaini, Camila B Furlanetto, Matheus A B Pasquali, João Paulo A Santos, Daniel P Gelain, José Cláudio F Moreira, Patrícia F Schuck, Gustavo C Ferreira, Emilio L Streck
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of the branched-chain α-keto acid dehydrogenase complex activity. This blockage leads to accumulation of the branched-chain amino acids leucine, isoleucine and valine, as well as their corresponding α-keto acids and α-hydroxy acids. The affected patients present severe neurological symptoms, such as coma and seizures, as well as edema and cerebral atrophy. Considering that the mechanisms of the neurological symptoms presented by MSUD patients are still poorly understood, in this study, protein levels of apoptotic factors are measured, such as Bcl-2, Bcl-xL, Bax, caspase-3 and -8 in hippocampus and cerebral cortex of rats submitted to acute administration of branched-chain amino acids during their development...
August 11, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27507644/in-silico-analysis-of-novel-mutations-in-maple-syrup-urine-disease-patients-from-iran
#20
Maryam Abiri, Razieh Karamzadeh, Marziyeh Mojbafan, Mohammad Reza Alaei, Atefeh Jodaki, Masomeh Safi, Soodeh Kianfar, Ameneh Bandehi Sarhaddi, Mohammad Reza Noori-Daloii, Morteza Karimipoor, Sirous Zeinali
Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by mutations either in the BCKDHA, BCKDHB, DBT or DLD genes encoding components of the E1α, E1β, E2 and E3 subunits of branched-chain α-keto acid dehydrogenase complex (BCKDC), respectively. BCKDC is a mitochondrial enzyme which is responsible for the normal breakdown of BCAA. The rate of consanguineous marriage in Iran is 38.6 %, so the prevalence of autosomal recessive disorders is higher in comparison to other countries...
August 10, 2016: Metabolic Brain Disease
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