Glycogen Branching Enzyme Deficiency in Quarter Horse Foals
نویسندگان
چکیده
منابع مشابه
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestation. The most sev...
متن کاملDevelopmental onset of polysaccharide storage myopathy in 4 Quarter Horse foals.
Polysaccharide storage myopathy (PSSM) is characterized by the accumulation of glycogen and an abnormal polysaccharide in the skeletal muscle fibers of Quarter Horse–related breeds. Glycogen storage disorders have been identified in human beings and other animal species that are due to single gene mutations causing deficiencies in the enzyme activities of the glycogenolytic or glycolytic pathwa...
متن کاملBranching enzyme-deficiency glycogenosis: studies in therapy.
Type IV glycogen storage disease is caused by a deficiency of the branching enzyme, oc-1,4-glucan: ox-1,4-glucan 6-glucosyltransferase, EC 2.4.1.18 (Brown and Brown, 1966); and is characterized by the accumulation in liver, spleen, and other organs of glycogen with an abnormal structure. This glycogen has long outer chains, relatively few branch points, and gives a blue colour with iodine. It t...
متن کاملStructural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Mutations in the GBE1 gene lead to the heterogeneous early-onset glycogen storage disorder type IV (GSDIV) or the late-onset adult polyglucosan body disease (APBD). To better understand this ...
متن کاملBranching enzyme deficiency: expanding the clinical spectrum.
IMPORTANCE The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition of this new clinical entity is ...
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ژورنال
عنوان ژورنال: Journal of Veterinary Internal Medicine
سال: 2001
ISSN: 0891-6640,1939-1676
DOI: 10.1111/j.1939-1676.2001.tb01593.x