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Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med ; 21 : 40— Download references. This project was supported by educational grants from the Association for Glycogen Storage Disease, US, and the American College of Medical Genetics Foundation. We thank Salvatore DeMauro, MD, Mark Tarnopolsky, MD, PhD, William Rhead, MD, Lane Rutledge, MD, Joseph Wolfsdorf, MD, and Yuan-Tsong Chen, MD, PhD, for their prepublication reviews of this guideline.

Departments of Pediatrics, Duke University Medical Center, Durham, North Carolina. Community and Family Medicine, Duke University Medical Center, Durham, North Carolina. Medicine, Duke University Medical Center, Durham, North Carolina.

Department of Pediatrics, Nemours Children's Clinic, Jacksonville, Florida. Department of Pediatrics, Columbia University Medical Center, New York, New York. Departments of Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas. Departments of Neurology and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.

Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida. American College of Medical Genetics, Bethesda, Maryland. You can also search for this author in PubMed Google Scholar.

Correspondence to Priya S Kishnani. Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services.

Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results.

In determining the propriety of any specific procedure or test, the geneticists should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines. Reprints and permissions. Kishnani, P. et al. Glycogen Storage Disease Type III diagnosis and management guidelines.

Genet Med 12 , — Download citation. Issue Date : July Anyone you share the following link with will be able to read this content:. Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative. Skip to main content Thank you for visiting nature. nature genetics in medicine acmg practice guideline article. Download PDF. Abstract Purpose: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle.

Glycogen storage diseases Article 07 September Diagnostic accuracy and the first genotype—phenotype correlation in glycogen storage disease type V Article 05 December Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring Article 02 July PURPOSE This guideline is intended as an educational resource.

Overview and general background GDE is one of the few known proteins with two independent catalytic activities occurring at separate sites on a single polypeptide chain.

Target audience This guideline is directed at a wide range of providers. Table 1 Differential diagnosis of GSD III Full size table. Table 2 Suggested laboratory evaluations for a patient with hypoglycemia and hepatomegaly Full size table.

Biochemical analysis of GDE activity and glycogen content Clinical assays measure overall GDE activity in the affected tissue samples. Table 3 Biochemical and histologic characteristics of selected GSD types Full size table.

Ventricular hypertrophy and cardiomyopathy Individuals with GSD III do not develop valvular disease such as semilunar or atrioventricular valve regurgitation, but left ventricular hypertrophy LVH seems to be common in GSD III, although only a small fraction of individuals with GSD III actually develop cardiomyopathy symptomatic ventricular hypertrophy.

Routine evaluation and management Based on currently available data regarding cardiovascular involvement in GSD III, several recommendations for evaluation and management can be made.

Infants and young children with GSD IIIa and IIIb The initial focus of the diet for the infant and young child with either GSD IIIa or IIIb is to prevent hypoglycemia.

Adults with GSD IIIa and IIIb The emphasis of the diet for the adult with GSD IIIa is on a higher percentage of protein. Liver transplantation and organ allocation Although individuals with GSD III may develop histologic evidence of cirrhosis, so long as their synthetic function remains normal or well preserved, liver transplantation LT is not necessary.

Implications for muscle energy metabolism and exercise Muscle glycogen is a crucial fuel for anaerobic metabolism to support maximal effort and is broken down by myophosphorylase and muscle debranching enzyme.

Physical therapy Musculoskeletal assessment is recommended with respect to potential alterations in alignment described earlier hypermobility, increased width of base of support, anterior pelvic tilt, genu valgum and recurvatum, hindfoot valgus, and forefoot varus.

GENERAL MEDICAL CARE General medical care should be individualized as disease manifestations vary. No caption available. Full size image.

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Acknowledgements This project was supported by educational grants from the Association for Glycogen Storage Disease, US, and the American College of Medical Genetics Foundation.

View author publications. Additional information Disclosure: The authors declare no conflict of interest. Rights and permissions Reprints and permissions.

About this article Cite this article Kishnani, P. Copy to clipboard. This article is cited by Dietary Management of Metabolic Liver Disease Tanyaporn K. Kaenkumchorn Shreena Patel Rohit Kohli Current Hepatology Reports The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III Jing Wang Yuping Yu Jianbo Shu BMC Pediatrics Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study Philip J.

Hennis Elaine Murphy David J. Tomlinson Orphanet Journal of Rare Diseases Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review Jessica I. Gold Nina B. Gold Rebecca Ganetzky Orphanet Journal of Rare Diseases Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study Yi-Chia Chan Kai-Min Liu Jer-Yuarn Wu Orphanet Journal of Rare Diseases Search Search articles by subject, keyword or author.

Show results from All journals This journal. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Glycogen storage disease type I. Description Glycogen storage disease type I also known as GSDI or von Gierke disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.

Frequency The overall incidence of GSDI is 1 in , individuals. Causes Mutations in two genes, G6PC and SLC37A4 , cause GSDI. Learn more about the genes associated with Glycogen storage disease type I G6PC SLC37A4. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

Other Names for This Condition Glucosephosphate deficiency Glucosephosphate transport defect GSD I GSD type I Hepatorenal form of glycogen storage disease Hepatorenal glycogenosis Von Gierke disease Von Gierke's disease.

Genetic and Rare Diseases Information Center Glycogen storage disease type 1A Glycogen storage disease type 1B. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD.

Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE Ia; GSD1A GLYCOGEN STORAGE DISEASE Ib; GSD1B. Scientific Articles on PubMed PubMed. References Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS.

Glycogen Storage Disease Type I. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews R [Internet]. Seattle WA : University of Washington, Seattle; Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol. doi: Citation on PubMed or Free article on PubMed Central Chou JY, Mansfield BC.

Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat. Citation on PubMed or Free article on PubMed Central Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.

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Eur J Pediatr. Epub May

Official websites use. gov Glycogen storage disease type. gov website belongs to an Glycoggen government organization in the Tailored sports nutrition plans States. gov gype. Share sensitive information only on official, secure websites. Glycogen storage disease type I also known as GSDI or von Gierke disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Depending on the stotage of GSD a child has, Glycogen storage disease type may disese Glycogen storage disease type in the tyype, in the muscles, or both. GSD can also affect blood cells, the heart, kidneys, and other organs. Normally, Self-monitoring blood glucose is stored in the liver until the body needs energy. Then, enzymes convert glycogen into glucose so that it can travel through the bloodstream to cells that need fuel. Every cell in the body contains enzymes, but children with GSD lack one of the enzymes responsible for making glycogen or converting glycogen to glucose. GSD is a rare condition. According to the National Organization of Rare DiseasesGSD affects fewer than 1 in 40, people in the United States.

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One In a Million! Maren's Journey with Glycogen Storage Disease (GSD) - Connecticut Children's