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: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
The presentation of GSD type 1 may vary depending on the age of the patients. Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months) with protruded abdomen due to hepatomegaly. Neonates presents rarely with hypoglycemia and lactic acidosis.
History and Symptoms
The presentation of GSD type 1 may vary depending on the age of the patients.[1]
- Presenting symptoms in neonatal period includes hypoglycemia and lactic acidosis.
- Patients presents commonly in infancy period (particularly 3 - 6 months) with hepatomegaly and signs and symptoms of hypoglycemia.
History
Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):[2][3]
- 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
Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months). Symptoms include:[1][3][4]
- Protruded abdomen due to hepatomegaly
- Symptoms of acute metabolic derangement due to vomiting, diarrhea, and infections
- Failure to thrive
- Growth retardation
- Recurrent infections (particularly in GSD Ib patients) due to neutropenia and impaired neutrophil functions
- Muscular hypotonia
- Delayed psychomotor development
- Frequent lethargy
- Difficult arousal from overnight sleep
- Tremors
- Overwhelming hunger
Less common symptoms
The less common symptoms of glycogen storage disease type 1 include:[1][3][4]
References
- ↑ 1.0 1.1 1.2 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/
- ↑ 3.0 3.1 3.2 Ozen H (2007). "Glycogen storage diseases: new perspectives". World J. Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ 4.0 4.1 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.