Glycogen storage disease type I natural history, complications and prognosis: Difference between revisions
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==Natural History== | ==Natural History== | ||
*GST type 1 presents first as an average age of 6 months (1 - 12 months).<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref> | *GST type 1 presents first as an average age of 6 months (1 - 12 months).<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref> | ||
*If left untreated, glycogen storage diseases develops complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles. | |||
==Complications== | ==Complications== |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Natural History
- GST type 1 presents first as an average age of 6 months (1 - 12 months).[1]
- If left untreated, glycogen storage diseases develops complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.
Complications
Common complications of glycogen storage disease type I include:[1][2]
- Bleeding tendency due to impaired platelet function
- Pancreatitis due to hypertriglyceridemia
- Cholelithiasis due to hypertriglyceridemia
- Gout arthritis due to hyperuricemia
- Nephrolithiasis and nephrocalcinosis due to hyperuricemia
- Asymptomatic anemia
- Osteopenia leading to pathologic fractures
- Rickets
- Splenomegaly (particularly in GSD type 1b)
- Hepatic adenoma with potential for malignant transformation
- Osteoporosis
- Delayed puberty
- Pulmonary hypertension
- Polycystic ovaries
- Changes in brain function
Prognosis
- If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming hypoglycemia and acidosis.
- Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels.
- Mental retardation as a result of severe and recurrent hypoglycemia is considered preventable with appropriate treatment.
References
- ↑ 1.0 1.1 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.
- ↑ 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/