Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Institute of Orthopaedics and Traumatology, Faculty of Medicine FMUSP, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, School of Physical Education and Sport; Rheumatology Division; Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR, University of São Paulo, Brazil.
Food Research Center, University of São Paulo, São Paulo, Brazil.
Laboratory of Animal Microbiology, Department of Animal Science, Graduate School of Agricultural Science, Tohoku University, 468-1, Aramaki Aza Aoba, Aoba-ku, Sendai 980-0845, Japan.
Laboratory of Animal Microbiology, Department of Animal Science, Graduate School of Agricultural Science, Tohoku University, 468-1, Aramaki Aza Aoba, Aoba-ku, Sendai 980-0845, Japan.
University of São Paulo, Medicine University of Ribeirão Preto (FMRP-USP), Ribeirão Preto, São Paulo, Brazil. matheus.norberto@usp.br.
University of São Paulo, School of Physical Education and sport of Ribeirão Preto (EEFERP-USP), Ribeirão Preto, São Paulo, Brazil. matheus.norberto@usp.br.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
The aim of the Protocole National De Diagnostic et de Soins/French National Protocol for Diagnosis and Healthcare (PNDS) is to provide advice for health professionals on the optimum care provision and...
Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevate...
We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases. Accordingly...
In this study, we identified two novel variants c.597delG (p. Q199Hfs*2) and deletion of the entire exon 13 in AGL in a Chinese GSD III patient. We extend the mutation spectrum of AGL. We suggest that...
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder characterized by a deficiency of glycogen debranching enzyme (GDE) leading to cytosolic glycogen accumulation and inducing...
Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency....
The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III from the perspective of adult patients and caregivers of individuals with GSD III....
Online survey and qualitative interviews....
Following institutional review board approval, adult patients and caregivers of children with GSD III were recruited through advocacy networks and clinical sites. If eligible, participants were consen...
In all, 29 adults and 46 caregivers completed the online survey and/or the interviews with 73 survey and 19 interview respondents. Adults and caregivers reported digestive, musculoskeletal, growth and...
Individuals with GSD III experience a broad spectrum of symptoms and disease impacts. There is an unmet need for therapies that improve metabolic control, reduce the burden of dietary management, redu...
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzym...
Glycogen storage disease Type III (GSD III) is an autosomal recessive disease due to the deficiency of the debranching enzyme, which has two main consequences: a reduced availability of glucose due to...
Glycogen Storage Disease type III (GSD III) is a metabolic disorder resulting from a deficiency of the Glycogen Debranching Enzyme (GDE), a large monomeric protein (approximately 170 kDa) with cytopla...
Enzyme Replacement Therapy (ERT) might represent a potential therapeutic strategy for GSD III. Moreover, the single-gene nature of GSD III, the subcellular localization of GDE, and the type of affecte...
This gene yielded high amounts of soluble, enzymatically active protein in Escherichia coli. Moreover, when transfected in Human Embryonic Kidney cells (HEK-293), it successfully encoded a functional ...
These results suggest that our gene or protein might complement the missing function in GSD III patients, opening the door to further exploration of therapeutic approaches for this disease....
Glycogen storage disease type III (GSDIII) is a uncommon autosomal recessive inherited metabolic disorder, which is caused by variants in the AGL gene. The purpose of this study was to elucidate the c...
We collected the clinical and laboratory data of the two patients. Genetic testing was performed using GSDs gene panel sequencing, and the identified variants were classified according to the American...
The two patients were hospitalized with abnormal liver function or hepatomegaly, which was characterized by remarkably elevated liver enzyme and muscle enzyme levels, as well as hepatomegaly, and were...
These findings indicated that the two newly identified variants in the AGL gene (c.1484A > G; c.1981G > T) were undoubtedly pathogenic mutations, inducing a slight reduction in glycogen debranching en...
Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and he...
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepa...
