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Maple syrup urine disorder

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https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#1
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/27730080/demographic-and-clinical-characteristics-of-the-children-with-aminoacidopathy-in-isfahan-province-central-iran-in-2007-2015
#2
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
#3
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/27682710/co-existence-of-phenylketonuria-either-with-maple-syrup-urine-disease-or-sandhoff-disease-in-two-patients-from-iran-emphasizing-the-role-of-consanguinity
#4
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
#5
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
#6
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/27535382/evaluation-of-dynamic-thiol-disulphide-homeostasis-as-a-novel-indicator-of-oxidative-stress-in-maple-syrup-urine-disease-patients-under-treatment
#7
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/27507644/in-silico-analysis-of-novel-mutations-in-maple-syrup-urine-disease-patients-from-iran
#8
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
https://www.readbyqxmd.com/read/27373929/metformin-inhibits-branched-chain-amino-acid-bcaa-derived-ketoacidosis-and-promotes-metabolic-homeostasis-in-msud
#9
Davis S Sonnet, Monique N O'Leary, Mark A Gutierrez, Steven M Nguyen, Samiha Mateen, Yuehmei Hsu, Kylie P Mitchell, Antonio J Lopez, Jerry Vockley, Brian K Kennedy, Arvind Ramanathan
Maple Syrup Urine Disease (MSUD) is an inherited disorder caused by the dysfunction in the branched chain keto-acid dehydrogenase (BCKDH) enzyme. This leads to buildup of branched-chain keto-acids (BCKA) and branched-chain amino acids (BCAA) in body fluids (e.g. keto-isocaproic acid from the BCAA leucine), leading to numerous clinical features including a less understood skeletal muscle dysfunction in patients. KIC is an inhibitor of mitochondrial function at disease relevant concentrations. A murine model of intermediate MSUD (iMSUD) shows significant skeletal muscle dysfunction as by judged decreased muscle fiber diameter...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27357264/heterozygous-liver-transplantation-for-maple-syrup-urine-disease-first-european-reported-case
#10
I Roilides, I Xinias, A Mavroudi, H Ioannou, P Savopoulou, G Imvrios
MSUD is an autosomal recessive metabolic disorder that results from a defect in the BCKDH enzyme. This enzyme is essential for the second step in the metabolism of the branched-chain amino acids, leucine, isoleucine, and valine. Patients with MSUD are subject to severe, irreversible neurologic injury unless closely managed with a specialized metabolic formula and a diet restricted in leucine throughout their lifetime. During times of illness, patients with MSUD can suffer from severe metabolic derangement, acute cerebral edema, and untimely death...
September 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27334242/acrodermatitis-dysmetabolica-in-an-infant-with-maple-syrup-urine-disease
#11
K Flores, R Chikowski, D S Morrell
Acrodermatitis dysmetabolica (AD) is a rare, newly termed, and poorly understood disease that appears to be clinically similar to acrodermatitis enteropathica (AE). Both diseases are characterized by the triad of periorificial and acral dermatitis, diarrhoea, and alopecia. Unlike AE, which is caused by zinc deficiency, AD is caused by numerous metabolic disorders. One such disorder is maple syrup urine disease (MSUD), a genetic deficiency of branched chain α-ketoacid dehydrogenase, the enzyme that degrades the branched-chain amino acids (BCAAs) isoleucine, leucine and valine...
August 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27319399/successful-living-donor-liver-transplantation-for-classical-maple-syrup-urine-disease
#12
Toshihiro Yasui, Tatsuya Suzuki, Fujio Hara, Shunsuke Watanabe, Naoko Uga, Atsuki Naoe, Tetsushi Yoshikawa, Tetsuya Ito, Yoko Nakajima, Hiroki Miura, Atsushi Sugioka, Yutaro Kato, Takamasa Tokoro, Yoshinao Tanahashi, Mureo Kasahara, Akinari Fukuda, Hiroki Kurahashi
MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15-month-old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet...
August 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27238151/-onset-of-hereditary-metabolic-encephalopathy-can-be-seen-after-the-neonatal-period
#13
Line Carøe Sørensen, Shazia Rehman, Allan Meldgaard Lund
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder causing accumulation of the branched amino acids valin, isoleucin, leucin and their toxic metabolites resulting in ketoacidosis, progressive neurological deterioration and cerebral oedema. The classical form presents in the first days of life. In contrast, the intermittent form of MSUD presents later in childhood and is difficult to diagnose biochemically. Clinical awareness is important due to high mortality if not treated. We here present two cases with late-onset intermittent MSUD...
May 30, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27146437/qualitative-urinary-organic-acid-analysis-10-years-of-quality-assurance
#14
Verena Peters, James R Bonham, Georg F Hoffmann, Camilla Scott, Claus-Dieter Langhans
Over the last 10 years, a total of 90 urine samples from patients with metabolic disorders and controls were circulated to different laboratories in Europe and overseas, starting with 67 laboratories in 2005 and reaching 101 in 2014. The participants were asked to analyse the samples in their usual way and to prepare a report as if to a non-specialist pediatrician. The performance for the detection of fumarase deficiency, glutaric aciduria type I, isovaleric aciduria, methylmalonic aciduria, mevalonic aciduria, phenylketonuria and propionic aciduria was excellent (98-100 %)...
September 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27117295/acute-metabolic-crises-in-maple-syrup-urine-disease-after-liver-transplantation-from-a-related-heterozygous-living-donor
#15
Aisha Al-Shamsi, Alastair Baker, Anil Dhawan, Jozef Hertecant
Maple syrup urine disease (MSUD) is an autosomal recessive disorder associated with impaired metabolism of branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Children with MSUD suffer from bouts of metabolic decompensation, which may lead to neurological damage. Liver transplantation from unrelated deceased donors has been considered curative. The natural history of the disease following transplantation using a haploidentical (obligate heterozygous) living donor is still unclear, although previously described as favorable...
2016: JIMD Reports
https://www.readbyqxmd.com/read/27008193/parent-coping-and-the-behavioural-and-social-outcomes-of-children-diagnosed-with-inherited-metabolic-disorders
#16
Amy Brown, Louise Crowe, Avihu Boneh, Vicki Anderson
OBJECTIVE: To explore the level of coping and management of parents of children with inherited metabolic disorders (IMD) and the relationship with children's cognitive, behavioural and social functioning. METHODS: Parents of children (n = 22) with confirmed IMD (glutaric aciduria type I, methylmalonic aciduria, propionic aciduria, isovaleric aciduria, glycogen storage disease, maple syrup urine disease, ornithine transcarbamylase or very long-chain acyl-CoA dehydrogenase deficiency) completed standardised questionnaires regarding psychological distress, coping and family management...
March 24, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26983835/living-with-intoxication-type-inborn-errors-of-metabolism-a-qualitative-analysis-of-interviews-with-paediatric-patients-and-their-parents
#17
Nina A Zeltner, Markus A Landolt, Matthias R Baumgartner, Sarah Lageder, Julia Quitmann, Rachel Sommer, Daniela Karall, Chris Mühlhausen, Andrea Schlune, Sabine Scholl-Bürgi, Martina Huemer
INTRODUCTION: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting in a growing number of long-term survivors. Consequently, health-related quality of life (HrQoL) of patients is increasingly regarded as a meaningful outcome parameter. To develop the first validated, disease-specific HrQoL questionnaire for IT-IEM, patients and parents were interviewed as content experts to identify major physical and psychosocial constraints and resources...
March 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26790708/inborn-errors-of-metabolism-detectable-by-tandem-mass-spectrometry-in-egypt-the-first-newborn-screening-pilot-study
#18
Fayza A Hassan, Fatma El-Mougy, Sahar A Sharaf, Iman Mandour, Marian F Morgan, Laila A Selim, Sawsan A Hassan, Fadia Salem, Azza Oraby, Marian Y Girgis, Iman G Mahmoud, Amira El-Badawy, Ibrahim El-Nekhely, Nadia Moharam, Dina A Mehaney, Mohamed A Elmonem
OBJECTIVES: To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children's Hospital for the same disorders over the past 7 years using the same technology. METHODS: Dried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population...
September 2016: Journal of Medical Screening
https://www.readbyqxmd.com/read/26786177/living-related-versus-deceased-donor-liver-transplantation-for-maple-syrup-urine-disease
#19
Flavia Feier, Ida Vanessa D Schwartz, Abigail R Benkert, Joao Seda Neto, Irene Miura, Paulo Chapchap, Eduardo Antunes da Fonseca, Sandra Vieira, Maria Lúcia Zanotelli, Filippo Pinto e Vairo, Jose Simon Camelo, Ana Vitoria Barban Margutti, George V Mazariegos, Erik G Puffenberger, Kevin A Strauss
Maple syrup urine disease (MSUD) is an inherited disorder of branched chain ketoacid (BCKA) oxidation associated with episodic and chronic brain disease. Transplantation of liver from an unrelated deceased donor restores 9-13% whole-body BCKA oxidation capacity and stabilizes MSUD. Recent reports document encouraging short-term outcomes for MSUD patients who received a liver segment from mutation heterozygous living related donors (LRDT). To investigate effects of living related versus deceased unrelated grafts, we studied four Brazilian MSUD patients treated with LRDT who were followed for a mean 19 ± 12 postoperative months, and compared metabolic and clinical outcomes to 37 classical MSUD patients treated with deceased donor transplant...
March 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26683372/developmental-defects-of-caenorhabditis-elegans-lacking-branched-chain-%C3%AE-ketoacid-dehydrogenase-are-mainly-caused-by-monomethyl-branched-chain-fatty-acid-deficiency
#20
Fan Jia, Mingxue Cui, Minh T Than, Min Han
Branched-chain α-ketoacid dehydrogenase (BCKDH) catalyzes the critical step in the branched-chain amino acid (BCAA) catabolic pathway and has been the focus of extensive studies. Mutations in the complex disrupt many fundamental metabolic pathways and cause multiple human diseases including maple syrup urine disease (MSUD), autism, and other related neurological disorders. BCKDH may also be required for the synthesis of monomethyl branched-chain fatty acids (mmBCFAs) from BCAAs. The pathology of MSUD has been attributed mainly to BCAA accumulation, but the role of mmBCFA has not been evaluated...
February 5, 2016: Journal of Biological Chemistry
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