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JOURNAL ARTICLE
Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, Ebru Canda, Havva Yazıcı, Merve Yoldaş Çelik, Fehime Erdem, Ayşe Yüksel Yanbolu, Zülal Ülger, Mahmut Çoker
Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ± 7.4 years) completed the study. Patients were prescribed a personalized high-protein, high-fat diet, comprising 3...
April 16, 2024: Journal of Inherited Metabolic Disease
#2
JOURNAL ARTICLE
Zhiling Li, Xiaoyan Zhang, Huan Chen, Hanshi Zeng, Jiaxing Wu, Ying Wang, Ni Ma, Jiaoli Lan, Yuxin Zhang, Huilin Niu, Lei Shang, Xun Jiang, Min Yang
Glycogen storage disease type Ib (GSD-Ib) is a rare inborn error of glycogen metabolism caused by mutations in SLC37A4. Patients with GSD-Ib are at high risk of developing inflammatory bowel disease (IBD). We evaluated the efficacy of empagliflozin, a renal sodium‒glucose cotransporter protein 2 (SGLT2) inhibitor, on colonic mucosal healing in patients with GSD-associated IBD. A prospective, single-arm, open-label clinical trial enrolled eight patients with GSD-associated IBD from Guangdong Provincial People's Hospital in China from July 1, 2022 through December 31, 2023...
April 15, 2024: Scientific Reports
#3
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
#4
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)
#5
JOURNAL ARTICLE
Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya, Charles Rauch, Shuichiro Nakabo, Hye Sun Kuehn, Mariël Swart, Yanli Wang, Nisa Ilgim Çelik, Anne Molitor, Vahid Ziaee, Nasim Movahedi, Mohammad Shahrooei, Nima Parvaneh, Nasrin Alipour-Olyei, Raphael Carapito, Qin Xu, Silvia Preite, David B Beck, Jae Jin Chae, Michele Nehrebecky, Amanda K Ombrello, Patrycja Hoffmann, Tina Romeo, Natalie T Deuitch, Brynja Matthíasardóttir, James Mullikin, Hirsh Komarow, Jennifer Stoddard, Julie Niemela, Kerry Dobbs, Colin L Sweeney, Holly Anderton, Kate E Lawlor, Hiroyuki Yoshitomi, Dan Yang, Manfred Boehm, Jeremy Davis, Pamela Mudd, Davide Randazzo, Wanxia Li Tsai, Massimo Gadina, Mariana J Kaplan, Junya Toguchida, Christian T Mayer, Sergio D Rosenzweig, Luigi D Notarangelo, Kazuhiro Iwai, John Silke, Pamela L Schwartzberg, Bertrand Boisson, Jean-Laurent Casanova, Seiamak Bahram, Anand Prahalad Rao, Nieves Peltzer, Henning Walczak, Najoua Lalaoui, Ivona Aksentijevich, Daniel L Kastner
The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage disease. In mice, the loss of Sharpin leads to severe dermatitis due to excessive keratinocyte cell death. Here, we report two individuals with SHARPIN deficiency who manifest autoinflammatory symptoms but unexpectedly no dermatological problems. Fibroblasts and B cells from these individuals showed attenuated canonical NF-κB responses and a propensity for cell death mediated by TNF superfamily members...
April 12, 2024: Nature Immunology
#6
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
#7
JOURNAL ARTICLE
Alexander V Skurat, Dyann M Segvich, Christopher J Contreras, Yueh-Chiang Hu, Thomas D Hurley, Anna A DePaoli-Roach, Peter J Roach
Lafora disease (LD) is an autosomal recessive myoclonus epilepsy with onset in the teenage years leading to death within a decade of onset. LD is characterized by the overaccumulation of hyperphosphorylated, poorly branched, insoluble, glycogen-like polymers called Lafora bodies. The disease is caused by mutations in either EPM2A, encoding laforin, a dual specificity phosphatase that dephosphorylates glycogen, or EMP2B, encoding malin, an E3-ubiquitin ligase. While glycogen is a widely accepted laforin substrate, substrates for malin have been difficult to identify partly due to the lack of malin antibodies able to detect malin in vivo...
April 6, 2024: Journal of Biological Chemistry
#8
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
#9
JOURNAL ARTICLE
Jindan Yu, Xiuxin Ling, Lingli Chen, Youhong Fang, Haihua Lin, Jingan Lou, Yanqi Ren, Jie Chen
Glycogen storage diseases (GSDs) are abnormally inherited glycogen metabolism mainly affecting the liver, muscles, and heart. Deficiency of proteins involved in glycogen metabolism caused by genetic mutations are responsible for different subtype of GSDs. However, there are still some challenges in diagnosing GSD. This study includes 39 suspected GSDs patients from unrelated families in China. Next-generation sequencing (NGS) was used to investigate the reason for their diseases at the genetic level. Finally, all 39 patients were diagnosed with GSDs, including 20 GSD-Ia, 4 GSD-VI, and 15 GSD IX (12 GSD-IXa patients and 3 GSD-IXb patients)...
April 5, 2024: Clinical Genetics
#10
JOURNAL ARTICLE
Shixuan Zhuo, Meijuan Bai, Zinan Wang, Lingling Chen, Zixuan Li, Jinzhu Chen, Xiaoyi Ye, Cheng Guo, Yan Chen
Glycogen is a form of energy storage for glucose in different tissues such as liver and skeletal muscle. It remains incompletely understood how glycogen impacts on adipose tissue functionality. Cold exposure elevated the expression of Gys1 which encodes glycogen synthase 1 in brown adipose tissue (BAT) and inguinal white adipose tissue (iWAT). The in vivo function of Gys1 was analyzed using a mouse model in which Gys1 was deleted specifically in adipose tissues. Under normal chow conditions, Gys1 deletion caused little changes to body weight and glucose metabolism...
April 3, 2024: American Journal of Physiology. Endocrinology and Metabolism
#11
JOURNAL ARTICLE
Xingxian Guo, Jiangxia Pu, Ziqi Tang, Can Jia, Fan Yang, Tianyi Liu, Yinyuan Ding
BACKGROUND: LDL receptor-related protein-1 (LRP1) is a cell-surface receptor that functions in diverse physiological pathways. We previously demonstrated that hepatocyte-specific LRP1 deficiency (hLRP1KO) promotes diet-induced insulin resistance and increases hepatic gluconeogenesis in mice. However, it remains unclear whether LRP1 regulates hepatic glycogenesis. METHODS: Insulin signaling, glycogenic gene expression, and glycogen content were assessed in mice and HepG2 cells...
April 3, 2024: Animal Models and Experimental Medicine
#12
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
#13
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
#14
JOURNAL ARTICLE
Magdalena Kaczor, Stanislaw Malicki, Justyna Folkert, Ewelina Dobosz, Danuta Bryzek, Barbara Chruścicka-Smaga, Milena Greczan, Dorota Wesół-Kucharska, Barbara Piatosa, Emilia Samborowska, Joanna Madzio, Janusz Książyk, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Jan Potempa, Wojciech Młynarski, Dariusz Rokicki, Florian Veillard
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) are caused by the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) in granulocytes. The antidiabetic drug empagliflozin reduces the concentration of 1,5-anhydroglucitol (1,5 AG), thus restoring neutrophil counts and functions, leading to promising results in previous case reports. Here, we present a comprehensive analysis of neutrophil function in seven GSD1b patients and 11 healthy donors, aiming to evaluate the immediate (after 3 months) and long-term (after 12 months) efficacy of empagliflozin compared to the reference treatment with granulocyte-colony stimulating factor (G-CSF)...
March 26, 2024: Blood Advances
#15
JOURNAL ARTICLE
Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
BACKGROUND: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and cardiac ventricular hypertrophy. GBE1 sequencing identified two variants: a known pathogenic missense variant, c.1544G>A (p.Arg515His), and a missense variant of unknown significance (VUS), c...
June 2024: Molecular Genetics and Metabolism Reports
#16
JOURNAL ARTICLE
Huseyin Bilgin, Ayse Ergul Bozaci
AIM: It was aimed to identify markers that would indicate which cases presenting with rhabdomyolysis are more likely to be associated with inherited metabolic diseases. METHODS: We analyzed 327 children who applied to our Hospital Pediatric Nutrition and Metabolic Diseases Clinic with rhabdomyolysis. The diagnosis of rhabdomyolysis was made by measuring the serum creatinine kinase level in cases presenting with muscle pain, weakness and dark urine. RESULTS: Metabolic disease was detected in 29 (16/13, M/F) patients from 26 different families...
June 2024: Molecular Genetics and Metabolism Reports
#17
JOURNAL ARTICLE
Sabrina Ravaglia, Simone Gana, Enza Maria Valente
No abstract text is available yet for this article.
March 21, 2024: Pediatric Research
#18
JOURNAL ARTICLE
Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh
BACKGROUND: Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance. CASE PRESENTATION: An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted...
March 18, 2024: BMC Pediatrics
#19
JOURNAL ARTICLE
Rentaro Uno, Yasushi Makino, Hiroshi Matsubara
Glycogen debranching enzyme is a single polypeptide with distinct catalytic sites for 4-α-glucanotransferase and amylo-α-1,6-glucosidase. To allow phosphorylase to degrade the inner tiers of highly branched glycogen, 4-α-glucanotransferase converts the phosphorylase-limit biantennary branch G-G-G-G-(G-G-G-G↔)G-G- (G: D-glucose, hyphens: α-1,4-linkages; double-headed arrow: α-1,6-linkage) into the G-G-G-G-(G↔)G-G- residue, which is then subjected to amylo-α-1,6-glucosidase to release the remaining G↔ residue...
March 18, 2024: Journal of Biochemistry
#20
JOURNAL ARTICLE
Kimberley M Mellor, Upasna Varma, Parisa Koutsifeli, Lorna J Daniels, Victoria L Benson, Marco Annandale, Xun Li, Yohanes Nursalim, Johannes V Janssens, Kate L Weeks, Kim L Powell, Terence J O'Brien, Rajesh Katare, Rebecca H Ritchie, James R Bell, Roberta A Gottlieb, Lea M D Delbridge
Diabetic heart disease morbidity and mortality is escalating. No specific therapeutics exist and mechanistic understanding of diabetic cardiomyopathy etiology is lacking. While lipid accumulation is a recognized cardiomyocyte phenotype of diabetes, less is known about glycolytic fuel handling and storage. Based on in vitro studies, we postulated the operation of an autophagy pathway in the myocardium specific for glycogen homeostasis - glycophagy. Here we visualize occurrence of cardiac glycophagy and show that the diabetic myocardium is characterized by marked glycogen elevation and altered cardiomyocyte glycogen localization...
March 13, 2024: Journal of Molecular and Cellular Cardiology
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