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Glycogen storage diseases

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https://www.readbyqxmd.com/read/27900094/malignant-transformation-of-hepatocellular-adenoma-with-bone-marrow-metaplasia-arising-in-glycogen-storage-disease-type-i-a-case-report
#1
Tomohiro Iguchi, Motoyuki Yamagata, Takashi Sonoda, Kimihiko Yanagita, Tetsuhiro Fukahori, Eiji Tsujita, Shinichi Aishima, Yoshinao Oda, Yoshihiko Maehara
Malignant transformation of hepatocellular adenoma (HA) is relatively rare and has been reported to be associated with dysregulation of the β-catenin pathway. The presence of bone marrow metaplasia in HA is an uncommon histological characteristic. The current report presents the case of a 46-year-old woman with glycogen storage disease type I (von Gierke's disease) who underwent resection of hepatocellular carcinoma (HCC) arising in a HA with associated bone marrow metaplasia producing three series of hematopoietic cells...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#2
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#3
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27888103/luteolin-improves-non-alcoholic-fatty-liver-disease-in-db-db-mice-by-inhibition-of-liver-x-receptor-activation-to-down-regulate-expression-of-sterol-regulatory-element-binding-protein-1c
#4
Ye Yin, Lu Gao, Haiyan Lin, Yue Wu, Xiao Han, Yunxia Zhu, Jie Li
In this study, we report that daily administration of luteolin for 8 weeks improved hepatic steatosis by repressing hepatic TG accumulation and increasing glycogen storage. Luteolin inhibited hepatic de novo lipid synthesis by regulating the LXR-SREBP-1c signaling pathway, which is over-activated in the livers of db/db mice. Further in vitro studies revealed that luteolin can competitively bind to the ligand binding domain to suppress the LXR activation induced by an LXR agonist and high glucose, thereby decreasing TG accumulation in HepG2 cells and primary hepatocytes...
November 22, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27864142/glycogen-storage-disease-type-ib-neutrophils-exhibit-impaired-cell-adhesion-and-migration
#5
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Hyun Sik Jun, Janice Chou
Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is an inherited autosomal recessive disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Neutrophils play an essential role in the defense against invading pathogens. The recruitment of neutrophils towards the inflammation sites in response to inflammatory stimuli is a tightly regulated process involving rolling, adhesion, and transmigration. In this study, we investigated the role of G6PT in neutrophil adhesion and migration using in vivo and in vitro models...
November 15, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#6
Thomas J Conlon, Cathryn S Mah, Christina A R Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, Charles C Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa-/- mice resulted in high-level transduction of the diaphragm...
November 17, 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27832700/systemic-correction-of-murine-glycogen-storage-disease-type-iv-by-an-aav-mediated-gene-therapy
#7
Haiqing Yi, Quan Zhang, Elizabeth D Brooks, Chunyu Yang, Beth L Thurberg, Priya S Kishnani, Baodong Sun
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. We evaluate the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (<i>Gbe1<sup>ys/ys</sup></i>). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old <i>Gbe1<sup>ys/ys</sup></i> mice at a dose of 5x10<sup>11</sup> vector genomes per mouse...
November 10, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#8
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
October 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27811061/liver-p53-is-stabilized-upon-starvation-and-required-for-amino-acid-catabolism-and-gluconeogenesis
#9
Andreas Prokesch, Franziska A Graef, Tobias Madl, Jennifer Kahlhofer, Steffi Heidenreich, Anne Schumann, Elisabeth Moyschewitz, Petra Pristoynik, Astrid Blaschitz, Miriam Knauer, Matthias Muenzner, Juliane G Bogner-Strauss, Gottfried Dohr, Tim J Schulz, Michael Schupp
The ability to adapt cellular metabolism to nutrient availability is critical for survival. The liver plays a central role in the adaptation to starvation by switching from glucose-consuming processes and lipid synthesis to providing energy substrates like glucose to the organism. Here we report a previously unrecognized role of the tumor suppressor p53 in the physiologic adaptation to food withdrawal. We found that starvation robustly increases p53 protein in mouse liver. This induction was posttranscriptional and mediated by a hepatocyte-autonomous and AMP-activated protein kinase-dependent mechanism...
November 3, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27806790/-clinical-observation-on-human-alpha-glucosidase-in-treatment-of-five-patients-with-glycogen-storage-disease-%C3%A2
#10
L L Xu, L D Zhang, Y J Liang, W Tang, X Q Huang, Y X Pei, Y C Cheng, H M Huang, C Zhang
Objective: To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ). Method: The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Patient 2 was male, the age of onset was 20 months. Patient 3 was female, the sister of patient 2, the age of onset was 47 months. Patient 4 was male, the age of onset was 5 months...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27782369/the-structure-of-brain-glycogen-phosphorylase-from-allosteric-regulation-mechanisms-to-clinical-perspectives
#11
REVIEW
Cécile Mathieu, Jean-Marie Dupret, Fernando Rodrigues Lima
Glycogen phosphorylase (GP) is the key enzyme that regulates glycogen mobilization in cells. GP is a complex allosteric enzyme that comprises a family of three isozymes: muscle GP (mGP), liver GP (lGP), and brain GP (bGP). Although the three isozymes display high similarity and catalyze the same reaction, they differ in their sensitivity to the allosteric activator adenosine monophosphate (AMP). Moreover, inactivating mutations in mGP and lGP have been known to be associated with glycogen storage diseases (McArdle and Hers disease, respectively)...
October 26, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27747161/alglucosidase-alfa-treatment-alleviates-liver-disease-in-a-mouse-model-of-glycogen-storage-disease-type-iv
#12
Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S Kishnani, Baodong Sun
Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27738106/biliverdin-reductase-a-attenuates-hepatic-steatosis-by-inhibition-of-glycogen-synthase-kinase-gsk-3%C3%AE-phosphorylation-of-serine-73-of-peroxisome-proliferator-activated-receptor-ppar-%C3%AE
#13
Terry D Hinds, Katherine A Burns, Peter A Hosick, Lucien McBeth, Andrea Nestor-Kalinoski, Heather A Drummond, Abdulhadi A AlAmodi, Michael W Hankins, John P Vanden Heuvel, David E Stec
Non-alcoholic fatty liver disease is the most rapidly growing form of liver disease and if left untreated can result in non-alcoholic steatohepatitis, ultimately resulting in liver cirrhosis and failure. Biliverdin reductase A (BVRA) is a multifunctioning protein primarily responsible for the reduction of biliverdin to bilirubin. Also, BVRA functions as a kinase and transcription factor, regulating several cellular functions. We report here that liver BVRA protects against hepatic steatosis by inhibiting glycogen synthase kinase 3β (GSK3β) by enhancing serine 9 phosphorylation, which inhibits its activity...
November 25, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27718144/cardiomyopathy-as-presenting-sign-of-glycogenin-1-deficiency-report-of-three-cases-and-review-of-the-literature
#14
Carola Hedberg-Oldfors, Emma Glamuzina, Peter Ruygrok, Lisa J Anderson, Perry Elliott, Oliver Watkinson, Chris Occleshaw, Malcolm Abernathy, Clinton Turner, Nicola Kingston, Elaine Murphy, Anders Oldfors
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis...
October 7, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27714243/inhibitory-properties-of-1-4-dideoxy-1-4-imino-d-arabinitol-dab-derivatives-acting-on-glycogen-metabolising-enzymes
#15
Mireia Díaz-Lobo, Alda Lisa Concia, Livia Gómez, Pere Clapés, Ignacio Fita, Joan J Guinovart, Joan C Ferrer
Glycogen synthase (GS) and glycogen phosphorylase (GP) are the key enzymes that control, respectively, the synthesis and degradation of glycogen, a multi-branched glucose polymer that serves as a form of energy storage in bacteria, fungi and animals. An abnormal glycogen metabolism is associated with several human diseases. Thus, GS and GP constitute adequate pharmacological targets to modulate cellular glycogen levels by means of their selective inhibition. The compound 1,4-dideoxy-1,4-imino-d-arabinitol (DAB) is a known potent inhibitor of GP...
September 26, 2016: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/27693584/drug-induced-exocytosis-of-glycogen-in-pompe-disease
#16
Christopher T Turner, Maria Fuller, John J Hopwood, Peter J Meikle, Doug A Brooks
Pompe disease is caused by a deficiency in the lysosomal enzyme α-glucosidase, and this leads to glycogen accumulation in the autolysosomes of patient cells. Glycogen storage material is exocytosed at a basal rate in cultured Pompe cells, with one study showing up to 80% is released under specific culture conditions. Critically, exocytosis induction may reduce glycogen storage in Pompe patients, providing the basis for a therapeutic strategy whereby stored glycogen is redirected to an extracellular location and subsequently degraded by circulating amylases...
October 28, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27692944/alglucosidase-alfa-enzyme-replacement-therapy-as-a-therapeutic-approach-for-a-patient-presenting-with-a-prkag2-mutation
#17
Stephanie L Austin, Andrew Chiou, Baodong Sun, Laura E Case, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene...
September 28, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27664461/alterations-in-membrane-trafficking-and-pathophysiological-implications-in-lysosomal-storage-disorders
#18
REVIEW
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
November 2016: Biochimie
https://www.readbyqxmd.com/read/27637292/sword-a-simplified-desensitization-protocol-for-enzyme-replacement-therapy-in-adult-pompe-disease
#19
Laure Gallay, Philippe Petiot, Isabelle Durieu, Nathalie Streichenberger, Frederic Berard
Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Reactions range from mild to severe, sometimes requiring ERT suspension and anti-anaphylaxis drug administration...
July 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27612597/phosphoglycerate-mutase-deficiency-glycogen-storage-disease-x-caused-by-a-novel-variant-in-pgam-m
#20
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
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