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JOURNAL ARTICLE
Parinaz Moghimi, Farzad Hashemi-Gorji, Sanaz Jamshidi, Sahand Tehrani Fateh, Shadab Salehpour, Hossein Sadeghi, Fatemeh Norouzi Rostami, Reza Mirfakhraie, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2...
April 15, 2024: Biochemical Genetics
#2
JOURNAL ARTICLE
Hadil S Subih, Reem A Qudah, Sana Janakat, Hanadi Rimawi, Nour Amin Elsahoryi, Linda Alyahya
Glycogen storage diseases (GSDs) are a group of carbohydrate metabolism disorders, most of which are inherited in autosomal recessive patterns. GSDs are of two types: those that have to do with liver and hypoglycaemia (hepatic GSDs) and those that are linked to neuromuscular presentation. This study aims to assess the impact of dietary intervention, including medium-chain triglyceride (MCT) oil, on anthropometric measurements, body composition analysis and metabolic parameters among Jordanian children and is expected to be the first in the country...
April 2, 2024: Foods (Basel, Switzerland)
#3
JOURNAL ARTICLE
Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
BACKGROUND: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and neutropenia. Traditional treatment consists of feeding raw cornstarch which can help to adjust energy metabolism but has no positive effect on neutropenia, which is fatal for these patients. Recently, the pathophysiologic mechanism of the neutrophil dysfunction and neutropenia in GSD Ib has been found, and the treatment with the SGLT2 inhibitor empaglifozin is now well established...
April 11, 2024: Orphanet Journal of Rare Diseases
#4
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA gene that lead to severe cardiac and skeletal muscle myopathy. We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16...
2024: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
#5
REVIEW
Alessandro Rossi, Chiara Simeoli, Rosario Pivonello, Mariacarolina Salerno, Carmen Rosano, Barbara Brunetti, Pietro Strisciuglio, Annamaria Colao, Giancarlo Parenti, Daniela Melis, Terry G J Derks
Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e...
April 1, 2024: Reviews in Endocrine & Metabolic Disorders
#6
JOURNAL ARTICLE
Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai, Tuan-Anh Nguyen
The common autosomal recessive (AR) mutation carrier is still unknown in Vietnam. This study aims to identify the most common AR gene mutation carriers in women of reproductive age to build a Vietnamese-specific carrier screening panel for AR and X-linked disorders in the preconception and prenatal healthcare program. A cross-sectional study was conducted at University Medical Center-Branch 2 in Ho Chi Minh City from December 1st, 2020, to June 30th, 2023. 338 women have consented to take a 5 mL blood test to identify 540 recessive genes...
March 29, 2024: Scientific Reports
#7
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D'Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
BACKGROUND: Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a fatal outcome in the most severe cases but can either be benign or lead to an amelioration even in severe presentations. Muscle biopsy analysis is crucial for the identification of pathognomonic morphological features, such as core areas, nemaline bodies or rods, nuclear centralizations and congenital type 1 fibers disproportion...
2024: Frontiers in Neurology
#8
JOURNAL ARTICLE
Haley M Crane, Stephanie Asher, Laura Conway, Theodore G Drivas, Staci Kallish
RBCK1-related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1-related disease. This study carried out a phenotypic comparison between RBCK1-related disease and GSD IV to identify features that clinically differentiate these diagnoses...
March 4, 2024: American Journal of Medical Genetics. Part A
#9
REVIEW
A D Dornelles, A P P Junges, B Krug, C Gonçalves, H A de Oliveira Junior, I V D Schwartz
INTRODUCTION: Pompe disease (PD) is a glycogen disorder caused by the deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for infantile-onset PD (IOPD). METHODS: We systematically searched the MEDLINE (via PubMed) and Embase databases for prospective clinical studies evaluating ERT for IOPD on pre-specified outcomes. Meta-analysis was also performed...
2024: Frontiers in Pediatrics
#10
JOURNAL ARTICLE
Simone Poli, Ahmed F Emara, Naomi F Lange, Edona Ballabani, Angeline Buser, Michele Schiavon, David Herzig, Chiara Dalla Man, Lia Bally, Roland Kreis
The liver plays a central role in metabolic homeostasis, as exemplified by a variety of clinical disorders with hepatic and systemic metabolic disarrays. Of particular interest are the complex interactions between lipid and carbohydrate metabolism in highly prevalent conditions such as obesity, diabetes, and fatty liver disease. Limited accessibility and the need for invasive procedures challenge direct investigations in humans. Hence, noninvasive dynamic evaluations of glycolytic flux and steady-state assessments of lipid levels and composition are crucial for basic understanding and may open new avenues toward novel therapeutic targets...
February 29, 2024: NMR in Biomedicine
#11
JOURNAL ARTICLE
Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Barry J Byrne, Kristl G Claeys, Jordi Díaz-Manera, Pascal Laforêt, Mark Roberts, Antonio Toscano, Ans T van der Ploeg, Jeff Castelli, Mitchell Goldman, Fred Holdbrook, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar
The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa + mig) with alglucosidase alfa + placebo (alg + pbo) in adults with late-onset Pompe disease (LOPD). This ongoing open-label extension (OLE; NCT04138277) evaluates long-term safety and efficacy of cipa + mig. Outcomes include 6-min walk distance (6MWD), forced vital capacity (FVC), creatine kinase (CK) and hexose tetrasaccharide (Hex4) levels, patient-reported outcomes and safety...
February 28, 2024: Journal of Neurology
#12
JOURNAL ARTICLE
Sabire Gokalp, Ener Cagri Dinleyici, Cansu Muluk, Asli Inci, Emine Aktas, Ilyas Okur, Fatih Ezgu, Leyla Tumer
AIM: Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake of complex carbohydrates (supplied by uncooked cornstarch), restriction of sugars, and a lower amount of lipids. There is limited information about the dietary regimen in patients with GSD, which might affect the intestinal luminal pH and microbiota composition. The aim of this study to investigate the intestinal microbiota composition in patients with GSD receiving diet treatment...
February 24, 2024: European Journal of Clinical Nutrition
#13
REVIEW
Olga Żołnierkiewicz, Dorota Rogacka
Prolonged disruption in the balance of glucose can result in metabolic disorders. The kidneys play a significant role in regulating blood glucose levels. However, when exposed to chronic hyperglycemia, the kidneys' ability to handle glucose metabolism may be impaired, leading to an accumulation of glycogen. Earlier studies have shown that there can be a significant increase in glucose storage in the form of glycogen in the kidneys in diabetes. Podocytes play a crucial role in maintaining the integrity of filtration barrier...
February 11, 2024: Archives of Biochemistry and Biophysics
#14
JOURNAL ARTICLE
Na Zhang, Fuchen Liu, Yuying Zhao, Xiaohan Sun, Bing Wen, Jian-Qiang Lu, Chuanzhu Yan, Duoling Li
Pompe disease is a lysosomal storage disorder that preferentially affects muscles, and it is caused by GAA mutation coding acid alpha-glucosidase in lysosome and glycophagy deficiency. While the initial pathology of Pompe disease is glycogen accumulation in lysosomes, the special role of the lysosomal pathway in glycogen degradation is not fully understood. Hence, we investigated the characteristics of accumulated glycogen and the mechanism underlying glycophagy disturbance in Pompe disease. Skeletal muscle specimens were obtained from the affected sites of patients and mouse models with Pompe disease...
February 9, 2024: Journal of Pathology
#15
JOURNAL ARTICLE
Chris Carter, Tracy Boggs, Laura E Case, Priya Kishnani
Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enzyme replacement therapy with alglucosidase alfa (Myozyme/Lumizyme) has led to better outcomes, but many patients have plateaued or declined despite treatment. The second-generation ERT avalglucosidase alfa (Nexviazyme) was designed to have enhanced cellular uptake via the conjugation of additional bis-mannose-6-phosphate residues...
2024: Frontiers in Genetics
#16
JOURNAL ARTICLE
Qiushi Liang, Eva C Vlaar, Joon M Pijnenburg, Erikjan Rijkers, Jeroen A A Demmers, Arnold G Vulto, Ans T van der Ploeg, Niek P van Til, W W M Pim Pijnappel
Pompe disease is a lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), resulting in glycogen accumulation with profound pathology in skeletal muscle. We recently developed an optimized form of lentiviral gene therapy for Pompe disease in which a codon-optimized version of the GAA transgene (LV-GAAco) was fused to an insulin-like growth factor 2 (IGF2) peptide (LV-IGF2.GAAco), to promote cellular uptake via the cation-independent mannose-6-phosphate/IGF2 receptor. Lentiviral gene therapy with LV-IGF2...
January 16, 2024: Journal of Proteomics
#17
REVIEW
Sarah C Grünert, Terry G J Derks, Helen Mundy, R Neil Dalton, Jean Donadieu, Peter Hofbauer, Neil Jones, Sema Kalkan Uçar, Jamas LaFreniere, Enrique Landelino Contreras, Surekha Pendyal, Alessandro Rossi, Blair Schneider, Ronen Spiegel, Karolina M Stepien, Dorota Wesol-Kucharska, Maria Veiga-da-Cunha, Saskia B Wortmann
Glycogen storage disease type Ib (GSD Ib, biallelic variants in SLC37A4) is a rare disorder of glycogen metabolism complicated by neutropenia/neutrophil dysfunction. Since 2019, the SGLT2-inhibitor empagliflozin has provided a mechanism-based treatment option for the symptoms caused by neutropenia/neutrophil dysfunction (e.g. mucosal lesions, inflammatory bowel disease). Because of the rarity of GSD Ib, the published evidence on safety and efficacy of empagliflozin is still limited and does not allow to develop evidence-based guidelines...
January 17, 2024: Molecular Genetics and Metabolism
#18
João R Oliveira, João P Pereira, Mariana F Branco, Luísa C Leite, Ana I Patrício
McArdle's disease is a rare autosomal recessive disorder that affects glycogen storage. It typically manifests in adolescence or early adulthood with presenting symptoms, such as fatigue, myalgia, exercise intolerance, and cramps, which can be easily overlooked. This case report seeks to offer a comprehensive overview of the perspective of a patient living with McArdle's disease, emphasizing the importance of treatment encouragement. The report documents the case of a 25-year-old male presenting with myalgia and fatigue exacerbated by strenuous exercise, illustrating the diagnostic challenges associated with McArdle's disease, primarily attributable to clinician unawareness...
December 2023: Curēus
#19
JOURNAL ARTICLE
Julie C Ullman, Kevin T Mellem, Yannan Xi, Vyas Ramanan, Hanne Merritt, Rebeca Choy, Tarunmeet Gujral, Lyndsay E A Young, Kerrigan Blake, Samnang Tep, Julian R Homburger, Adam O'Regan, Sandya Ganesh, Perryn Wong, Terrence F Satterfield, Baiwei Lin, Eva Situ, Cecile Yu, Bryan Espanol, Richa Sarwaikar, Nathan Fastman, Christos Tzitzilonis, Patrick Lee, Daniel Reiton, Vivian Morton, Pam Santiago, Walter Won, Hannah Powers, Beryl B Cummings, Maarten Hoek, Robert R Graham, Sanjay J Chandriani, Russell Bainer, Anna A DePaoli-Roach, Peter J Roach, Thomas D Hurley, Ramon C Sun, Matthew S Gentry, Christopher Sinz, Ryan A Dick, Sarah B Noonberg, David T Beattie, David J Morgans, Eric M Green
Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are no known potent, selective small-molecule inhibitors of this enzyme. Here, we report the preclinical characterization of MZ-101, a small molecule that potently inhibits GYS1 in vitro and in vivo without inhibiting GYS2, a related isoform essential for synthesizing liver glycogen...
January 17, 2024: Science Translational Medicine
#20
JOURNAL ARTICLE
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian
BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the patient had been under the care of pediatric gastroenterologists...
January 12, 2024: Journal of Medical Case Reports
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