Glycogen storage disease type I history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Clinical manifestations result, directly or indirectly, from
- inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
- organ changes due to glycogen accumulation;
- excessive lactic acid generation;
- damage to tissue from hyperuricemia;
- in GSD Ib, bleeding and infection risk from blood cell effects.
History and Symptoms
Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):[1][2]
- Seizures or other manifestations of severe fasting hypoglycemia
- Hepatomegaly with abdominal protuberance
- Hyperventilation and apparent respiratory distress due to metabolic acidosis
- Episodes of vomiting due to metabolic acidosis, often precipitated by a minor illness and accompanied by hypoglycemia
References
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J. Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.