West syndrome associated with glycogen storage disease type 1b
نویسندگان
چکیده
منابع مشابه
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).
Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated-for unknown reasons- with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in whom nicotin-amide adenine dinucleotide phosphate-oxidase activity and chemotaxis were defective, we found that the majority of circulating gran...
متن کاملOral manifestations and anesthesia considerations in a child with glycogen storage disease type 1b: case report.
Glycogen disease (GSD) type la, known stora,ge as von Gierke s disease, is a rare autosomal recessive inborn error of metabolism in which there is an inability to cleave glycogen to glucose due to glucose 6-phosphatase (G6Pase) deficiency. 1, 2 The diagnosis currently is established by demonstrating the lack of G6Pase activity in the patient’s biopsied liver specimen. Recently, however, a DNA-b...
متن کاملGlycogen storage disease (type-III).
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 کاملInflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count.
Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl with GSD type 1b that was dignosed by mutation analysis. The patient was hospitalized with fever, ...
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ژورنال
عنوان ژورنال: Epilepsy & Seizure
سال: 2019
ISSN: 1882-5567
DOI: 10.3805/eands.11.46