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https://www.readbyqxmd.com/read/28425223/three-families-with-mild-pmm2-cdg-and-normal-cognitive-development
#1
Mari-Anne Vals, Eva Morava, Kai Teeäär, Riina Zordania, Sander Pajusalu, Dirk J Lefeber, Katrin Õunap
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death. We report six patients from three families who are diagnosed with a clinically mild PMM2-CDG and have normal cognitive development. All these patients had delayed gross motor skills with mild-to-moderate neurological findings...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#2
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28341975/longitudinal-volumetric-and-2d-assessment-of-cerebellar-atrophy-in-a-large-cohort-of-children-with-phosphomannomutase-deficiency-pmm2-cdg
#3
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano
OBJECTIVE: We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. METHODS: Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages...
March 24, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28323990/galactose-supplementation-in-patients-with-tmem165-cdg-rescues-the-glycosylation-defects
#4
Willy Morelle, Sven Potelle, Peter Witters, Sunnie Wong, Leslie Climer, Vladimir Lupashin, Gert Matthijs, Therese Gadomski, Jaak Jaeken, David Cassiman, Eva Morava, François Foulquier
Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases in which the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. There are >100 CDGs, but only specific types are treatable. Objective: Galactose has been shown to be beneficial in other CDG types with abnormal galactosylation...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323387/induction-of-tumor-regression-by-intratumoral-sting-agonists-combined-with-anti-programmed-death-l1-blocking-antibody-in-a-preclinical-squamous-cell-carcinoma-model
#5
Shekhar K Gadkaree, Juan Fu, Rupashree Sen, Michael J Korrer, Clint Allen, Young J Kim
BACKGROUND: Cyclic dinucleotides (CDNs) are bacterial intracellular messengers that have demonstrated antitumor activity in melanoma and breast tumors, although their role in immunotherapy of head and neck squamous cell cancers (HNSCCs) has not been well investigated. METHODS: We measured primary tumor growth rates, mechanism of antitumor activity, and efficacy of programmed death-L1 blockade combinatorial therapy in SCCFVII tumor-bearing C3H/HeOUJ mice undergoing intratumoral injections with RR-cyclic-di-guanine (synthetic CDG), CDG (natural cyclic-di-guanine), R848 (TLR 7/8 agonist), or phosphate buffered saline (PBS, control)...
March 21, 2017: Head & Neck
https://www.readbyqxmd.com/read/28318669/-impact-of-onsite-or-dispatched-automated-external-defibrillator-use-on-early-survival-after-sudden-cardiac-arrest-occurring-in-international-airports
#6
Elena Linda Garcia, Sherry Caffrey-Villari, Diomeda Ramirez, Jean-Luc Caron, Patrice Mannhart, Paul-Georges Reuter, Frederic Lapostolle, Frederic Adnet
INTRODUCTION: Out-of-hospital cardiac arrest (OHCA) is a major public health challenge. Use of automated external defibrillators (AED) by laypersons improves survival of patient's victim of OHCA. The aim of our study was to compare onsite AED vs. dispatched AED management of cardiac arrest occurring in international airports. METHODS: We conducted a retrospective, observational, comparative, study on data collected from three international airports: Paris-Charles-de-Gaulle (CDG), Chicago and Madrid-Barajas...
March 15, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#7
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms. Epileptic spasms were observed in patients with ALG1-, ALG6, ALG11-CDG and CDG-Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28270545/manganese-induced-turnover-of-tmem165
#8
Sven Potelle, Eudoxie Dulary, Leslie Climer, Sandrine Duvet, Willy Morelle, Dorothée Vicogne, Elodie Lebredonchel, Marine Houdou, Corentin Spriet, Marie-Ange Krzewinski-Recchi, Romain Peanne, André Klein, Geoffroy de Bettignies, Pierre Morsomme, Gert Matthijs, Thorsten Marquardt, Vladimir Lupashin, François Foulquier
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation defect due to TMEM165 deficiency resulted from a Golgi manganese homeostasis defect and that Mn(2+) supplementation was sufficient to rescue normal glycosylation. In the present paper, we highlight TMEM165 as a novel Golgi protein sensitive to manganese. When cells were exposed to high Mn(2+) concentrations, TMEM165 was degraded in lysosomes...
April 19, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28253385/association-of-steroid-5%C3%AE-reductase-type-3-congenital-disorder-of-glycosylation-with-early-onset-retinal-dystrophy
#9
Rachel L Taylor, Gavin Arno, James A Poulter, Kamron N Khan, Jiten Morarji, Sarah Hull, Nikolas Pontikos, Antonio Rueda Martin, Katherine R Smith, Manir Ali, Carmel Toomes, Martin McKibbin, Jill Clayton-Smith, Stephanie Grunewald, Michel Michaelides, Anthony T Moore, Alison J Hardcastle, Chris F Inglehearn, Andrew R Webster, Graeme C Black
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a consistent primary presenting feature. Objective: To investigate a series of patients with the same mutation in the SRD5A3 gene and thereby characterize its retinal manifestations and other associated features. Design, Setting and Participants: Seven affected individuals from 4 unrelated families with early-onset retinal dystrophy as a primary manifestation underwent comprehensive ophthalmic assessment, including retinal imaging and electrodiagnostic testing...
March 2, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28247339/galactose-epimerase-deficiency-expanding-the-phenotype
#10
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG)...
March 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28236367/comparison-of-transferrin-isoform-analysis-by-capillary-electrophoresis-and-hplc-for-screening-congenital-disorders-of%C3%A2-glycosylation
#11
Mihika B Dave, Alpa J Dherai, Vrajesh P Udani, Anaita U Hegde, Neelu A Desai, Tester F Ashavaid
BACKGROUND: Transferrin, a major glycoprotein has different isoforms depending on the number of sialic acid residues present on its oligosaccharide chain. Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern. Isoform analysis methods are based on charge/mass variations. We aimed to compare the performance of commercially available capillary electrophoresis CDT kit for diagnosing congenital disorders of glycosylation with our in-house optimized HPLC method for transferrin isoform analysis...
February 25, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28216230/activation-of-a-cryptic-splice-site-in-the-mitochondrial-elongation-factor-gfm1-causes-combined-oxphos-deficiency
#12
Mariella T Simon, Bobby G Ng, Marisa W Friederich, Raymond Y Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J Buckingham, Richard Chang, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, Johan L K Van Hove, Hudson H Freeze, Jose E Abdenur
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). One of the mutations had been reported previously while the second, novel variant was found deep in intron 6, activating a cryptic splice site...
February 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28182562/in-silico-modeling-of-the-functional-role-of-reduced-sialylation-in-sodium-and-potassium-channel-gating-of-mouse-ventricular-myocytes
#13
Dongping Du, Hui Yang, Andrew R Ednie, Eric S Bennett
Cardiac ion channels are highly glycosylated membrane proteins, with up to 30% of the protein's mass containing glycans. Heart diseases often accompany individuals with congenital disorders of glycosylation (CDG). However, cardiac dysfunction among CDG patients is not yet fully understood. There is an urgent need to study how aberrant glycosylation impacts cardiac electrical signaling. Our previous works reported that congenitally reduced sialylation achieved through deletion of the sialyltransferase gene, ST3Gal4, leads to altered gating of voltage-gated Na+ and K+ channels (Nav and Kv, respectively)...
February 6, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28165356/n-glycoprofiling-analysis-for-carbohydrate-composition-and-site-occupancy-determination-in-a-poly-glycosylated-protein-human-thyrotropin-of-different-origins
#14
Maria Teresa C P Ribela, Renata Damiani, Felipe D Silva, Eliana R Lima, João E Oliveira, Cibele N Peroni, Peter A Torjesen, Carlos R Soares, Paolo Bartolini
Human thyrotropin (hTSH) is a glycoprotein with three potential glycosylation sites: two in the α-subunit and one in the β-subunit. These sites are not always occupied and occupancy is frequently neglected in glycoprotein characterization, even though it is related to folding, trafficking, initiation of inflammation and host defense, as well as congenital disorders of glycosylation (CDG). For the first time N-glycoprofiling analysis was applied to the site-occupancy determination of two native pituitary hTSH, in comparison with three recombinant preparations of hTSH, a widely used biopharmaceutical...
February 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28139241/a-population-based-study-on-congenital-disorders-of-protein-n-and-combined-with-o-glycosylation-experience-in-clinical-and-genetic-diagnosis
#15
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, M Jesús Ecay, Laura Gort, Belén Pérez Dueñas, Celia Medrano, Alfredo García-Alix, Rafael Artuch, Paz Briones, Belén Pérez
OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase activities were measured in fibroblasts. Conventional or massive parallel sequencing (customized panel or Illumina Clinical-Exome Sequencing TruSight One Gene Panel) was used to identify genes and mutations...
January 27, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28122681/phenotypic-and-genotypic-spectrum-of-congenital-disorders-of-glycosylation-type-i-and-type-ii
#16
Amal Al Teneiji, Theodora U J Bruun, Sarah Sidky, Dawn Cordeiro, Ronald D Cohn, Roberto Mendoza-Londono, Mahendranath Moharir, Julian Raiman, Komudi Siriwardena, Lianna Kyriakopoulou, Saadet Mercimek-Mahmutoglu
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II. MATERIAL AND METHODS: All patients with CDG-I and CDG-II evaluated in our institution's Metabolic Genetics Clinics were included...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#17
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/28088503/evidence-for-splice-transcript-variants-of-tmem165-a-gene-involved-in-cdg
#18
Marie-Ange Krzewinski-Recchi, Sven Potelle, Anne-Marie Mir, Dorothée Vicogne, Eudoxie Dulary, Sandrine Duvet, Willy Morelle, Geoffroy de Bettignies, François Foulquier
BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca(2+)/H(+) antiporters regulating Ca(2+) and pH homeostasis and mainly localized in the Golgi apparatus...
April 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28045519/7-carboxy-7-deazaguanine-synthase-a-radical-s-adenosyl-l-methionine-enzyme-with-polar-tendencies
#19
Nathan A Bruender, Tsehai A J Grell, Daniel P Dowling, Reid M McCarty, Catherine L Drennan, Vahe Bandarian
Radical S-adenosyl-l-methionine (SAM) enzymes are widely distributed and catalyze diverse reactions. SAM binds to the unique iron atom of a site-differentiated [4Fe-4S] cluster and is reductively cleaved to generate a 5'-deoxyadenosyl radical, which initiates turnover. 7-Carboxy-7-deazaguanine (CDG) synthase (QueE) catalyzes a key step in the biosynthesis of 7-deazapurine containing natural products. 6-Carboxypterin (6-CP), an oxidized analogue of the natural substrate 6-carboxy-5,6,7,8-tetrahydropterin (CPH4), is shown to be an alternate substrate for CDG synthase...
February 8, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28017302/cardiodynamicsgram-as-a-new-diagnostic-tool-in-coronary-artery-disease-patients-with-nondiagnostic-electrocardiograms
#20
Muqing Deng, Min Tang, Cong Wang, Liang Shan, Linfeng Zhang, Jingtao Zhang, Weiming Wu, Ling Xia
Cardiodynamicsgram (CDG) has emerged recently as a noninvasive spatiotemporal electrocardiographic method for subtle cardiac dynamics information analysis within electrocardiogram (ECG). This study sought to evaluate the clinical utility of CDG for early coronary artery disease (CAD) detection in suspected patients with CAD presenting with nondiagnostic ECGs. A total of 421 suspected patients with CAD presenting with nondiagnostic ECG were enrolled. Standard 12-lead ECG and CDG were performed simultaneously, 1 day before invasive coronary angiography...
December 2, 2016: American Journal of Cardiology
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