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Liver Transplantation for Glycogen Storage Disease Type IV [PDF]

Frontiers in Pediatrics, 2021
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Min Liu, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +4 more sources

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene [PDF]

Frontiers in Genetics, 2022
Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems.
Yiyang Li, Yiyang Li, Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Weijie Zhang, Qiuyu Liutang, Qiuyu Liutang, Yajun Wang, Yajun Wang, Guoda Ma, Guoda Ma, Riling Chen, Riling Chen   +14 more
doaj   +2 more sources

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV [PDF]

Children, 2023
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj   +2 more sources

Further Characterization of Glycogen from Type‐IV Glycogen‐Storage Disease [PDF]

European Journal of Biochemistry, 1973
Glycogen from a male child suffering from type IV glycogenosis was debranched with bacterial isoamylase and fractionated on Sephadex G‐50. The unit chains, set free by the isoamylase, emerged as a single peak, similar to that for normal human liver glycogen, but of higher average chain length.
C, Mercier, W J, Whelan
openaire   +3 more sources

Liver Transplantation for Type IV Glycogen Storage Disease [PDF]

New England Journal of Medicine, 1991
Type IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen’s disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as well as in cultured skin fibroblasts and other tissues.2,3 This branching enzyme is responsible for
Selby, R, Starzl, TE, Yunis, E, Tzakis, A, Brown, BI, Kendall, RS   +5 more
openaire   +4 more sources

Myopathy in glycogen storage disease type IV: case report of a family

Бюллетень сибирской медицины
Aim. To study the clinical presentation and differential diagnosis of a rare hereditary disease glycogen storage disease type IV with progressive skeletal myopathy in a case report of a family.Materials and methods.
I. F. Fedoseeva, T. V. Poponnikova, O. S. Pinevich   +2 more
doaj   +2 more sources

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Frontiers in Genetics, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani   +5 more
doaj   +1 more source

Hepatocellular carcinoma in glycogen storage disease type IV [PDF]

Archives of Disease in Childhood, 2000
A 13 year old patient with juvenile type IV glycogen storage disease died of the complications of hepatocellular carcinoma. To our knowledge this is the first reported case of hepatocellular carcinoma in association with type IV glycogen storage disease.
R A, de Moor, J J, Schweizer, B, van Hoek, M, Wasser, R, Vink, P D, Maaswinkel-Mooy   +5 more
openaire   +2 more sources

Glycogen storage disease type IV: a case report [PDF]

Journal of Korean Medical Science, 1998
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited an abdominal distension and failure to thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites.
K Y, Lee, K H, Seo, H K, Lee, J W, Kim
openaire   +2 more sources

The Fine Structure of Glycogen from Type IV Glycogen‐Storage Disease [PDF]

European Journal of Biochemistry, 1970
The structure of glycogen isolated from a male child suffering from type IV glycogenosis (amylopectinosis) has been examined. It is confirmed that the polysaccharide is superficially similar to plant amylopectin. However, a more searching analysis involving the examination and comparison of the pullulanase‐debranched polysaccharides, revealed marked ...
C, Mercier, W J, Whelan
openaire   +2 more sources