Glycogen storage disease type I history and symptoms: Difference between revisions
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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
History
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
Symptoms
Common symptoms
The common symptoms of glycogen storage disease type 1 include:[3]
- Neonatal hypoglycemia (initial symptom)
- Protruded abdomen
- Symptoms of acute metabolic derangement due to vomiting, diarrhea, and infections
- Failure to thrive/growth retardation
- Recurrent infections (particularly in GSD Ib patients)
- Muscular hypotonia
- Delayed psychomotor development
- Seizures
Less common symptoms
The less common symptoms of glycogen storage disease type 1 include:[3]
- Tremors
- Irritability
- Cyanosis
- Apnea
- Coma
- Fatigue
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.
- ↑ 3.0 3.1 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.