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Glycogen Storage Disorder

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https://read.qxmd.com/read/30770309/reevaluating-the-pathogenicity-of-the-mutation-c-1194-5-g-a-in-gaa-gene-by-functional-analysis-of-rna-in-a-61-year-old-woman-diagnosed-with-pompe-disease-by-muscle-biopsy
#1
Cinthia Amiñoso, María Gordillo-Marañón, Jaime Hernández, Jesús Solera
Glycogen storage disease type II, or Pompe disease, is an autosomal recessive disorder caused by deficiency of lysosomal acid alpha-glucosidase (GAA). We performed genetic analysis to confirm the diagnosis of Pompe disease in a 61-year-old patient with progressive weakness in extremities, severe Sleep Apnea-Hypopnea Syndrome, a significant reduction of alpha-glucosidase in liquid sample of peripheral blood and muscular biopsy diagnosis. GAA gene sequencing showed the patient is homozygous for the splice-site mutation c...
December 15, 2018: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30740405/glycogen-metabolism-and-glycogen-storage-disorders
#2
REVIEW
Shibani Kanungo, Kimberly Wells, Taylor Tribett, Areeg El-Gharbawy
Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is therefore, crucial to meet cellular energy demands in both - normal physiological states and during stress or increased demands. Glucose is stored as glycogen primarily in the liver and skeletal muscle with a small amount stored in the brain. Liver glycogen primarily maintains blood glucose levels, while skeletal muscle glycogen is utilized during high-intensity exertion, and brain glycogen is an emergency cerebral energy source...
December 2018: Annals of Translational Medicine
https://read.qxmd.com/read/30737079/congenital-disorder-of-glycosylation-type-1t-with-a-novel-truncated-homozygous-mutation-in-pgm1-gene-and-literature-review
#3
Wo-Tu Tian, Xing-Hua Luan, Hai-Yan Zhou, Chao Zhang, Xiao-Jun Huang, Xiao-Li Liu, Sheng-Di Chen, Hui-Dong Tang, Li Cao
The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid. Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft palate and bifid uvula. Exercise induced elevation of serum creatine kinase (CK), ammonia and lactic acid was recorded. The abnormal levels of myoglobin, CK-MB and LDH as well as S-T elevation in electrocardiogram were observed in repeated hospitalization recordings...
January 6, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30723783/patient-derived-induced-pluripotent-stem-cells-for-alpha-1-antitrypsin-deficiency-disease-modeling-and-therapeutic-discovery
#4
Joseph E Kaserman, Andrew A Wilson
PIZZ alpha-1 antitrypsin deficiency (AATD) is an autosomal recessive disease affecting approximately 100,000 individuals in the United States and one of the most common hereditary causes of liver disease.1 The most common form of the disease results from a single base pair mutation (Glu342Lys), known as the "Z" mutation, that encodes a mutant protein (Z alpha-1 antritypsin [AAT]) that is prone to misfolding and is retained in the endoplasmic reticulum (ER) rather than appropriately secreted. Some of the retained mutant protein attains an unusual aggregated or polymerized conformation...
September 15, 2018: Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation
https://read.qxmd.com/read/30659246/diagnosis-and-management-of-glycogen-storage-diseases-type-vi-and-ix-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#5
Priya S Kishnani, Jennifer Goldstein, Stephanie L Austin, Pamela Arn, Bert Bachrach, Deeksha S Bali, Wendy K Chung, Areeg El-Gharbawy, Laurie M Brown, Stephen Kahler, Surekha Pendyal, Katalin M Ross, Laurie Tsilianidis, David A Weinstein, Michael S Watson
PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone...
January 19, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30650529/molecular-pathways-and-respiratory-involvement-in-lysosomal-storage-diseases
#6
REVIEW
Paola Faverio, Anna Stainer, Federica De Giacomi, Serena Gasperini, Serena Motta, Francesco Canonico, Federico Pieruzzi, Anna Monzani, Alberto Pesci, Andrea Biondi
Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease. A literature search was conducted using the Medline/PubMed and EMBASE databases to identify studies, from 1968 through to November 2018, that investigated the respiratory manifestations and molecular pathways affected in LSD...
January 15, 2019: International Journal of Molecular Sciences
https://read.qxmd.com/read/30594732/lysosomal-storage-disorders-affecting-the-heart-a-review
#7
REVIEW
Vidhya Nair, Eric C Belanger, John P Veinot
Lysosomal storage disorders (LSD) comprise a group of diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Lysosomal storage disorders result from an accumulation of specific substrates, due to the inability to break them down. The diseases are classified according to the type of material that is accumulated; for example, lipid storage disorders, mucopolysaccharidoses and glycoproteinoses. Cardiac disease is particularly important in lysosomal glycogen storage diseases (Pompe and Danon disease), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease)...
December 1, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://read.qxmd.com/read/30569318/glycogen-storage-disease-type-iv-a-rare-cause-for-neuromuscular-disorders-or-often-missed
#8
Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, Ludo van der Pol, Dennis Dooijes, Johannes M P J Breur, Saskia Biskup, Sabine A Fuchs, Gepke Visser
Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnosed with congenital myopathy based on a muscle biopsy at the age of 6 years. The genetic cause of his disorder (two compound heterozygous missense mutations in GBE1 (c.[760A>G] p.[Thr254Ala] and c.[1063C>T] p...
December 20, 2018: JIMD Reports
https://read.qxmd.com/read/30559630/improvement-in-cardiac-function-with-enzyme-replacement-therapy-in-a-patient-with-infantile-onset-pompe-disease
#9
Dmitriy Niyazov, Diego A Lara
Background: Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alfa (Lumizyme) improves medical and functional outcomes in patients with infantile-onset Pompe disease. Case Report: We report the case of a patient with infantile-onset Pompe disease who presented with severe hypertrophic cardiomyopathy, systolic and diastolic cardiac dysfunction, and hypotonia...
2018: Ochsner Journal
https://read.qxmd.com/read/30535597/cellular-metabolism-at-a-glance
#10
Inês Mesquita, Fernando Rodrigues
Metabolism is highly coordinated component of the cellular activity that involves sequential chemical transformations, within a so-called metabolic network. Through these coordinated actions, living organisms acquire energy and biosynthetic precursors to maintain cellular homeostasis and function. Metabolism relies on the breaking down of macromolecules to produce energy [catabolism] and/or intermediary metabolites that are then used to construct essential building blocks for macromolecule production [anabolism]...
2018: Experientia. Supplementum
https://read.qxmd.com/read/30521848/novel-metabolic-disorders-in-skeletal-muscle-of-lipodystrophic-bscl2-seipin-deficient-mice
#11
Wenqiong Xu, Hongyi Zhou, Hongzhuan Xuan, Pradip Saha, Gongxian Wang, Weiqin Chen
Bscl2-/- mice recapitulate many of the major metabolic manifestations in Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) individuals, including lipodystrophy, hepatosteatosis, muscular hypertrophy, and insulin resistance. Metabolic defects in Bscl2-/- mice with regard to glucose and lipid metabolism in skeletal muscle have never been investigated. Here, we identified Bscl2-/- mice displayed reduced intramyocellular triglyceride (IMTG) content but increased glycogen storage predominantly in oxidative type I soleus muscle (SM)...
December 4, 2018: Molecular and Cellular Endocrinology
https://read.qxmd.com/read/30461220/lack-of-muscle-mtor-kinase-activity-causes-early-onset-myopathy-and-compromises-whole-body-homeostasis
#12
Qing Zhang, Agnès Duplany, Vincent Moncollin, Sandrine Mouradian, Evelyne Goillot, Laetitia Mazelin, Karine Gauthier, Nathalie Streichenberger, Céline Angleraux, Jie Chen, Shuzhe Ding, Laurent Schaeffer, Yann-Gaël Gangloff
BACKGROUND: The protein kinase mechanistic target of rapamycin (mTOR) controls cellular growth and metabolism. Although balanced mTOR signalling is required for proper muscle homeostasis, partial mTOR inhibition by rapamycin has beneficial effects on various muscle disorders and age-related pathologies. Besides, more potent mTOR inhibitors targeting mTOR catalytic activity have been developed and are in clinical trials. However, the physiological impact of loss of mTOR catalytic activity in skeletal muscle is currently unknown...
November 21, 2018: Journal of Cachexia, Sarcopenia and Muscle
https://read.qxmd.com/read/30451720/neutropenia-in-glycogen-storage-disease-ib-outcomes-for-patients-treated-with-granulocyte-colony-stimulating-factor
#13
David C Dale, Audrey Anna Bolyard, Tracy Marrero, Merideth L Kelley, Vahagn Makaryan, Emily Tran, Jamie Leung, Laurence A Boxer, Priya S Kishnani, Stephanie Austin, Corbinian Wanner, Iris A Ferrecchia, Dina Khalaf, Dawn Maze, Joanne Kurtzberg, Cornelia Zeidler, Karl Welte, David A Weinstein
PURPOSE OF REVIEW: Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporter responsible for transport of glucose into the endoplasmic reticulum. Neutropenia in GSD Ib is now frequently treated with granulocyte colony-stimulating factor (G-CSF). We formed a cooperative group to review outcomes of the long-term treatment of GSD Ib patients treated with G-CSF...
January 2019: Current Opinion in Hematology
https://read.qxmd.com/read/30442292/cardiac-phenotypes-in-hereditary-muscle-disorders-jacc-state-of-the-art-review
#14
REVIEW
Eloisa Arbustini, Alessandro Di Toro, Lorenzo Giuliani, Valentina Favalli, Nupoor Narula, Maurizia Grasso
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies...
November 13, 2018: Journal of the American College of Cardiology
https://read.qxmd.com/read/30397902/myopathies-related-to-glycogen-metabolism-disorders
#15
REVIEW
Mark A Tarnopolsky
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycerate mutase (PGAM2), aldolase A (ALDOA), β-enolase (ENO3)); however, 3 involve glycogen synthesis (glycogenin-1 (GYG1), glycogen synthase (GSE), and branching enzyme (GBE1)). Many present with exercise-induced cramps and rhabdomyolysis with higher-intensity exercise (i...
November 5, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://read.qxmd.com/read/30371346/post-mortem-diagnosis-of-pompe-disease-by-exome-sequencing-in-a-moroccan-family-a-case-report
#16
Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi, Mohamed Taoudi, Layla Zniber, Wafaa Jdioui, Said El Mouatassim, Abdelaziz Sefiani
BACKGROUND: Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygous mutations in the GAA gene, which encodes for the lysosomal enzyme alpha-glucosidase, required for the degrading of lysosomal glycogen. CASE PRESENTATION: In this study, we report the case of a Moroccan consanguineous family with hypertrophic cardiomyopathy and sudden cardiac deaths at an early age; our patient was a 7-month-old Moroccan girl...
October 29, 2018: Journal of Medical Case Reports
https://read.qxmd.com/read/30345254/a-case-of-glycogen-storage-disease-iv-with-rare-homozygous-mutations-in-the-glycogen-branching-enzyme-gene
#17
So Yoon Choi, Ben Kang, Jae Young Choe, Yoon Lee, Hyo Jeong Jang, Hyung-Doo Park, Suk-Koo Lee, Yon Ho Choe
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1 , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
October 2018: Pediatric Gastroenterology, Hepatology & Nutrition
https://read.qxmd.com/read/30343140/role-of-autophagy-in-inherited-metabolic-and-endocrine-myopathies
#18
REVIEW
Ying Tan, Yan Gong, Maolong Dong, Zhaohui Pei, Jun Ren
The prevalence of cardiometabolic disease has reached an exponential rate of rise over the last decades owing to high fat/high caloric diet intake and satiety life style. Although the presence of dyslipidemia, insulin resistance, hypertension and obesity mainly contributes to the increased incidence of cardiometabolic diseases, population-based, clinical and genetic studies have revealed a rather important role for inherited myopathies and endocrine disorders in the ever-rising metabolic anomalies. Inherited metabolic and endocrine diseases such as glycogen storage and lysosomal disorders have greatly contributed to the overall prevalence of cardiometabolic diseases...
October 18, 2018: Biochimica et biophysica acta. Molecular basis of disease
https://read.qxmd.com/read/30318896/liver-transplantation-in-patients-with-type-iiia-glycogen-storage-disease-cirrhosis-and-hepatocellular-carcinoma
#19
Elena Iglesias Jorquera, Paula Tomás Pujante, Gema Ruiz García, Ángel Manuel Vargas Acosta, José Antonio Pons Miñano
Type III glycogen storage disease (GSD-III) is an autosomal recessive disorder due to the deficiency of the glycogen debrancher enzyme. 80% of the patients have hepatic and muscular involvement (IIIa), compared to 15% with only liver involvement (IIIb). As the life expectancy improves in these patients, the possible liver complications are better understood.
October 15, 2018: Revista Española de Enfermedades Digestivas
https://read.qxmd.com/read/30311141/case-of-neonatal-fatality-from-neuromuscular-variant-of-glycogen-storage-disease-type-iv
#20
Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar
Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Typically, GSD-IV presents with rapidly progressive liver cirrhosis and death in early childhood...
October 12, 2018: JIMD Reports
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