Author/Authors
Ayvaz, Adnan Cumhuriyet University - School of Medicine - Department of Pediatrics, Turkey , Tanzer, Fatoş Cumhuriyet University - School of Medicine - Department of Pediatrics, Turkey
Title Of Article
Glycogen storage disease type 1a: a case report
شماره ركورد
32932
Abstract
Glycogen storage disease type Ia (GSD Ia) is a rare autosomal disorder. Type I is the most serious of all hepatic glycogenosis because it leads to a complet blockage of glucose releases from liver. The production of glucose from glycogen or glyconeogenesis is impaired. The most marked characteristic of the disease is severe fasting hypoglycemia with concomitant lactic acidosis, elevation of free fatty acids, hyperlipemia, elevated transaminases, hyperuricemia and metabolic acidosis. We report a 4-month-old female case which we described a glycogen storage disease type Ia based on clinical and laboratory studies.
From Page
115
NaturalLanguageKeyword
Glycogen storage disease type Ia , GSD Ia
JournalTitle
Cumhuriyet Medical Journal
To Page
117
JournalTitle
Cumhuriyet Medical Journal
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