Glycogen storage disease type I natural history, complications and prognosis
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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 develop complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.
- Untreated patients usually have a cushingoid appearance due to short stature with a round face and full cheeks.[2]
Complications
Common complications of glycogen storage disease type I include:[1][3][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
- Anemia (especially in patients with hepatic adenoma)
- Osteoporosis
- Delayed puberty
- Pulmonary hypertension
- Polycystic ovaries
- Changes in brain function
- Pulmonary hypertension
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.
- ↑ 2.0 2.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ 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/