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Congenital disorders of glycosylation

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https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#1
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29144225/prevalence-of-genetic-disorders-and-glut1-deficiency-in-a-ketogenic-diet-clinic
#2
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J Donner, Jeff Kobayashi, Gajja S Salomons, Saadet Mercimek-Andrews
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies...
November 16, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29112118/nutritional-therapies-in-congenital-disorders-of-glycosylation-cdg
#3
REVIEW
Peter Witters, David Cassiman, Eva Morava
Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies...
November 7, 2017: Nutrients
https://www.readbyqxmd.com/read/29079546/congenital-disorders-of-glycosylation-cdg-quo-vadis
#4
REVIEW
Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J Lefeber, Eva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29063274/conserved-oligomeric-golgi-and-neuronal-vesicular-trafficking
#5
Leslie K Climer, Rachel D Hendrix, Vladimir V Lupashin
The conserved oligomeric Golgi (COG) complex is an evolutionary conserved multi-subunit vesicle tethering complex essential for the majority of Golgi apparatus functions: protein and lipid glycosylation and protein sorting. COG is present in neuronal cells, but the repertoire of COG function in different Golgi-like compartments is an enigma. Defects in COG subunits cause alteration of Golgi morphology, protein trafficking, and glycosylation resulting in human congenital disorders of glycosylation (CDG) type II...
October 21, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#6
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29036200/the-effect-of-the-pathological-v72i-d109n-and-t190m-missense-mutations-on-the-molecular-structure-of-%C3%AE-dystroglycan
#7
Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr V Konarev, Andrea Brancaccio, Alberto Cassetta
Dystroglycan (DG) is a highly glycosylated protein complex that links the cytoskeleton with the extracellular matrix, mediating fundamental physiological functions such as mechanical stability of tissues, matrix organization and cell polarity. A crucial role in the glycosylation of the DG α subunit is played by its own N-terminal region that is required by the glycosyltransferase LARGE. Alteration in this O-glycosylation deeply impairs the high affinity binding to other extracellular matrix proteins such as laminins...
2017: PloS One
https://www.readbyqxmd.com/read/28987164/neurometabolic-and-neurodegenerative-diseases-in-children
#8
Josefine Radke, Werner Stenzel, Hans Hilmar Goebel
Neurometabolic and neurodegenerative diseases in children (NDDC) differ from those in adults in that most of the former are autosomal-recessively inherited - few have X-linked inheritance - while the latter are often sporadic or autosomal-dominantly inherited. NDDC may be catabolic and/or anabolic conditions, some of which combine maldevelopmental and degenerative features, for instance, peroxisomal biogenesis disorders or congenital disorders of glycosylation. NDDC are often multiorgan disorders, such as lysosomal, peroxisomal, and polyglucosan disorders...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#9
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28950866/public-and-patient-involvement-in-needs-assessment-and-social-innovation-a-people-centred-approach-to-care-and-research-for-congenital-disorders-of-glycosylation
#10
Cláudia de Freitas, Vanessa Dos Reis, Susana Silva, Paula A Videira, Eva Morava, Jaak Jaeken
BACKGROUND: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking...
September 26, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28940310/single-center-experience-of-n-linked-congenital-disorders-of-glycosylation-with-a-summary-of-molecularly-characterized-cases-in-arabs
#11
Fatma Bastaki, Sami Bizzari, Sana Hamici, Pratibha Nair, Madiha Mohamed, Fatima Saif, Ethar Mustafa Malik, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated by ethno-geographic differences in the mutational landscape of each of these subgroups. Ten Arab CDG patients from Latifa Hospital in Dubai, United Arab Emirates, were assessed using biochemical (glycosylation status of transferrin) and molecular approaches (next-generation sequencing [NGS] and Sanger sequencing)...
September 21, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#12
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28922188/new-insights-into-the-role-of-glycosylation-in-lipoprotein-metabolism
#13
Marjolein A W van den Boogert, Daniel J Rader, Adriaan G Holleboom
PURPOSE OF REVIEW: Human genetics has provided new insights into the role of protein glycosylation in regulating lipoprotein metabolism. Here we review these new developments and discuss the biological insights they provide. RECENT FINDINGS: Case descriptions of patients with congenital defects in N-glycosylation (CDG-I) frequently describe a distinct hypocholesterolemia in these rare multisystem clinical syndromes. Two novel CDGs with disturbed Golgi homeostasis and trafficking defects result in mixed glycosylation disorders, hepatic steatosis and hypercholesterolemia...
September 15, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#14
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#15
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28885776/monitoring-of-transferrin-isoforms-in-biological-samples-by-capillary-electrophoresis
#16
REVIEW
Jitka Caslavska, Wolfgang Thormann
Work dealing with the monitoring of transferrin isoforms in human serum and other body fluids by capillary electrophoresis is reviewed. It comprises capillary zone electrophoresis and capillary isoelectric focusing efforts that led to the exploration and use of assays for the determination of carbohydrate-deficient transferrin as marker for excessive alcohol intake, genetic variants of transferrin, congenital disorders of glycosylation and β-2-transferrin, which is a marker for cerebrospinal fluid leakage...
September 8, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/28883096/cog7-deficiency-in-drosophila-generates-multifaceted-developmental-behavioral-and-protein-glycosylation-phenotypes
#17
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Sarah Robinson, Roberta Fraschini, Angela Karimpour Ghahnavieh, Giorgio Belloni, Roberto Piergentili, Katherine H Tiemeyer, Michael Tiemeyer, Maria Grazia Giansanti
Congenital Disorders of Glycosylation (CDG) comprise a family of human multi-systemic diseases caused by recessive mutations in genes required for protein N-glycosylation. More than 100 distinct forms of CDGs have been identified and most of them cause severe neurological impairment. The Conserved Oligomeric Golgi (COG) complex mediates tethering of vesicles carrying glycosylation enzymes across the Golgi cisternae. Mutations affecting human COG1, COG2, COG4-COG8 cause monogenic forms of inherited, autosomal recessive, CDGs...
September 7, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28856833/encephalopathy-caused-by-novel-mutations-in-the-cmp-sialic-acid-transporter-slc35a1
#18
Bobby G Ng, Carla G Asteggiano, Martin Kircher, Kati J Buckingham, Kimiyo Raymond, Deborah A Nickerson, Jay Shendure, Michael J Bamshad, Matthias Ensslen, Hudson H Freeze
Transport of activated nucleotide-sugars into the Golgi is critical for proper glycosylation and mutations in these transporters cause a group of rare genetic disorders termed congenital disorders of glycosylation. We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#19
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#20
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
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