Neutropenia in glycogen storage disease Ib
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 ...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملUse of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.
BACKGROUND Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase resulting in severe fasting hypoglycemia. OBJECTIVE We compared the efficacy of a new modified starch with the currently used cornstarch therapy in patients with type Ia and Ib GSD. DESIGN This was a randomized, 2-d, double-blinded, crossover pilot study comparing the commonly used uncooked c...
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ژورنال
عنوان ژورنال: Current Opinion in Hematology
سال: 2019
ISSN: 1065-6251
DOI: 10.1097/moh.0000000000000474