Neutropenia in type Ib glycogen storage disease
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.
متن کاملMolecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis, but patients also manifest neutrophil dysfunction of unknown etiology. Previously, we showed G6PT...
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ژورنال
عنوان ژورنال: Current Opinion in Hematology
سال: 2010
ISSN: 1065-6251
DOI: 10.1097/moh.0b013e328331df85