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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#1
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#2
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28194540/erratum-to-international-paediatric-mitochondrial-disease-scale
#3
Saskia Koene
No abstract text is available yet for this article.
February 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28185024/disturbed-iron-metabolism-in-erythropoietic-protoporphyria-and-association-of-gdf15-and-gender-with-disease-severity
#4
Jasmin Barman-Aksoezen, Domenico Girelli, Caterina Aurizi, Xiaoye Schneider-Yin, Natascia Campostrini, Luca Barbieri, Elisabeth I Minder, Gianfranco Biolcati
Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i...
February 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28168361/recent-advances-in-liver-transplantation-for-metabolic-disease
#5
P J Mc Kiernan
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation.
February 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28160112/losartan-improves-aortic-dilatation-and-cardiovascular-disease-in-mucopolysaccharidosis-i
#6
LETTER
Esteban Alberto Gonzalez, Angela Maria Vicente Tavares, Edina Poletto, Roberto Giugliani, Ursula Matte, Guilherme Baldo
No abstract text is available yet for this article.
February 3, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28120165/investigating-the-link-of-acad10-deficiency-to-type-2-diabetes-mellitus
#7
Kaitlyn Bloom, Al-Walid Mohsen, Anuradha Karunanidhi, Dina El Demellawy, Miguel Reyes-Múgica, Yudong Wang, Lina Ghaloul-Gonzalez, Chikara Otsubo, Kimi Tobita, Radhika Muzumdar, Zhenwei Gong, Emir Tas, Shrabani Basu, Jie Chen, Michael Bennett, Charles Hoppel, Jerry Vockley
The Native American Pima population has the highest incidence of insulin resistance (IR) and type 2 diabetes mellitus (T2DM) of any reported population, but the pathophysiologic mechanism is unknown. Genetic studies in Pima Indians have linked acyl-CoA dehydrogenase 10 (ACAD10) gene polymorphisms, among others, to this predisposition. The gene codes for a protein with a C-terminus region that is structurally similar to members of a family of flavoenzymes-the acyl-CoA dehydrogenases (ACADs)-that catalyze α,β-dehydrogenation reactions, including the first step in mitochondrial FAO (FAO), and intermediary reactions in amino acids catabolism...
January 24, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#8
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28054208/is-2d-speckle-tracking-echocardiography-useful-for-detecting-and-monitoring-myocardial-dysfunction-in-adult-m-3243a-g-carriers-a-retrospective-pilot-study
#9
S Koene, J Timmermans, G Weijers, P de Laat, C L de Korte, J A M Smeitink, M C H Janssen, L Kapusta
OBJECTIVES: Cardiomyopathy is a common complication of mitochondrial disorders, associated with increased mortality. Two dimensional speckle tracking echocardiography (2DSTE) can be used to quantify myocardial deformation. Here, we aimed to determine the usefulness of 2DSTE in detecting and monitoring subtle changes in myocardial dysfunction in carriers of the 3243A>G mutation in mitochondrial DNA. METHODS: In this retrospective pilot study, 30 symptomatic and asymptomatic carriers of the mitochondrial 3243A>G mutation of whom two subsequent echocardiograms were available were included...
January 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28054207/mortality-after-hematopoietic-stem-cell-transplantation-for-severe-mucopolysaccharidosis-type-i-the-30-year-university-of-minnesota-experience
#10
Nathan J Rodgers, Alexander M Kaizer, Weston P Miller, Kyle D Rudser, Paul J Orchard, Elizabeth A Braunlin
BACKGROUND AND AIM: Mucopolysaccharidosis IH (MPS IH, Hurler syndrome) naturally leads to death within the first decade of life, primarily from cardiac and pulmonary causes. To determine how hematopoietic stem cell transplantation (HSCT) has altered mortality, we analyzed our institution's 30-year experience of patients with MPS IH undergoing HSCT. METHODS: Using chart review and the National Death Index, we determined survival status of 134 patients (males = 69) with MPS IH transplanted between 9/16/1983 and 7/25/2013 on 12/31/2013...
January 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#11
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27966099/small-molecules-as-therapeutic-agents-for-inborn-errors-of-metabolism
#12
REVIEW
Leslie Matalonga, Laura Gort, Antonia Ribes
Most inborn errors of metabolism (IEM) remain without effective treatment mainly due to the incapacity of conventional therapeutic approaches to target the neurological symptomatology and to ameliorate the multisystemic involvement frequently observed in these patients. However, in recent years, the therapeutic use of small molecules has emerged as a promising approach for treating this heterogeneous group of disorders. In this review, we focus on the use of therapeutically active small molecules to treat IEM, including readthrough agents, pharmacological chaperones, proteostasis regulators, substrate inhibitors, and autophagy inducers...
December 13, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28168360/nenad-blau-ed-phenylketonuria-and-bh4-deficiencies-3rd-edition-2016-112-pp-39-80-euro-isbn-978-3-8374-1526-1
#13
Avihu Boneh
No abstract text is available yet for this article.
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28101805/ketogenic-diet-in-pyruvate-dehydrogenase-complex-deficiency-short-and-long-term-outcomes
#14
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
OBJECTIVES: Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues. METHODS: Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28054209/long-term-outcome-of-expanded-newborn-screening-at-boston-children-s-hospital-benefits-and-challenges-in-defining-true-disease
#15
Yuval E Landau, Susan E Waisbren, Lawrence M A Chan, Harvey L Levy
INTRODUCTION: There is no universal consensus of the disorders included in newborn screening programs. Few studies so far, mostly short-term, have compared the outcome of disorders detected by expanded newborn screening (ENBS) to the outcome of the same disorders detected clinically. METHODS: We compared the clinical and neurodevelopmental outcomes in patients with metabolic disorders detected by ENBS, including biotinidase testing, with those detected clinically and followed at the Metabolism Clinic at Boston Children's Hospital...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27858262/international-clinical-guideline-for-the-management-of-classical-galactosemia-diagnosis-treatment-and-follow-up
#16
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, Alberto B Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S Gubbels, Ina Knerr, Philippe Labrune, Johanna H van der Lee, Anita MacDonald, Elaine Murphy, Pat A Portnoi, Katrin Õunap, Nancy L Potter, M Estela Rubio-Gozalbo, Jessica B Spencer, Inge Timmers, Eileen P Treacy, Sandra C Van Calcar, Susan E Waisbren, Annet M Bosch
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27766444/flunarizine-rescues-reduced-lifespan-in-cln3-triple-knock-out-caenorhabditis-elegans-model-of-batten-disease
#17
Young Joon Kwon, Marni J Falk, Michael J Bennett
CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. While no precise biochemical mechanism or therapies are known, the pathogenesis of CLN3 disease involves intracellular calcium accumulation that may trigger apoptosis. Our prior work in in vitro cell models of CLN3 deficiency suggested that FDA-approved calcium channel antagonists may have therapeutic value...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27957610/carla-e-m-hollak-and-robin-lachmann-editors-inherited-metabolic-disease-in-adults%C3%A2-a-clinical-guide-oxford-university-press-2016-626-pages-%C3%A2-130-isbn-978019997213
#18
https://www.readbyqxmd.com/read/27957609/jean-marie-saudubray-matthias-r-baumgartner-john-walter-eds-inborn-metabolic-diseases-diagnosis-and-treatment-2016-658%C3%A2-pp-isbn-978-3-66249771-5
#19
Ulrike Mütze
No abstract text is available yet for this article.
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27942911/g-f-hoffmann-j-zschocke-w-nyhan-eds-inherited-metabolic-diseases-a-clinical-approach-second-edition-heidelberg-springer-verlag-2017-isbn-3662494108-9783662494103
#20
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