Glycogen Storage Disease Type Ib: The First Case in Taiwan
نویسندگان
چکیده
منابع مشابه
A case of glycogen storage disease type Ib
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/μL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). (Korean J Pediatr 200...
متن کاملGlycogen Storage Disease type Ib: a paediatric case report.
AIM This paper addresses the need of the dental literature to document cases of Glycogen Storage Disease (GSD) type Ib with focus on the paediatric management of oral and dental problems and the potential complications arising from the increased susceptibility to bacterial infections, cariogenicity, and blood diathesis. METHODS Previous medical and dental papers on GSD type Ib published from ...
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Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
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We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.
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recessive disorder resulting from a defi ciency of acid α-glucosidase (GAA, or acid maltase), includes two main forms – infantileand late-onset glycogen storage disease type II (GSD II). Despite the age of onset and different life prognosis, Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The late-onset form of Pompe disease (L...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2009
ISSN: 1875-9572
DOI: 10.1016/s1875-9572(09)60048-6