منابع مشابه
Branching 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 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 ...
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 کاملGlycogen-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 کاملG6PD Enzyme Deficiency in Neonatal Pathologic Hyperbilirubinemia in Yazd
Abstract Background About 7.5% of the world population carries one or two deficient copy of glucose-6-phosphate dehydrogenase (G6PD) genes. According to WHO, its prevalence in Iran is 10 to 14.9%. This study aimed on determination of frequency of G6PD deficiency in neonates with jaundice who were hospitalized during 6 months (September 2008 to February 2009) in the city of Yazd, Iran. Materi...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2014
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.4888