Glycogen storage disease type III 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: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
If left untreated, patients with glycogen storage disease type 3 grow slowly and puberty is delayed. The myopathy of glycogen storage disease type 3 typically develop in the third to fourth decades of life. It manifests as muscle weakness which is slow and progressive and usually involves large proximal muscle of the shoulder and hips. Common complications of glycogen storage disease type 3 include left ventricular hypertrophy, myopathy, cardiomyopathy, hepatic adenoma with transformation into hepatocellular carcinoma, cirrhosis and hyperlipidemia. Prognosis is generally good after treatment. The presence of liver disease is associated with a particularly poor prognosis among patients with glycogen storage disease type 3.
Natural History, Complications, and Prognosis
Natural History
- If left untreated, patients with glycogen storage disease type 3 grow slowly and puberty is delayed.[1]
- The myopathy of glycogen storage disease type 3 typically develop in the third to fourth decades of life. It manifests as muscle weakness which is slow and progressive and usually involves large proximal muscle of the shoulder and hips.
- Accumulation of limit dextrin in cardiac muscles causes cardiomyopathy with echocardiographic findings similar to idiopathic hypertrophic cardiomyopathy.
- Hepatomegaly improves as the age progresses.
Complications
Prognosis
- Prognosis is generally good after treatment.[7]
- The presence of liver disease is associated with a particularly poor prognosis among patients with glycogen storage disease type 3.
References
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ Lee P, Burch M, Leonard JV (1995). "Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III". J Inherit Metab Dis. 18 (6): 751–2. PMID 8750616.
- ↑ Labrune P, Huguet P, Odievre M (1991). "Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients". Pediatr Cardiol. 12 (3): 161–3. doi:10.1007/BF02238523. PMID 1876514.
- ↑ Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT (1992). "Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy". Ann Intern Med. 116 (11): 896–900. PMID 1580445.
- ↑ Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA; et al. (1994). "Glycogen storage disease in adults". Ann Intern Med. 120 (3): 218–26. PMID 8273986.
- ↑ Smit GP, Fernandes J, Leonard JV, Matthews EE, Moses SW, Odievre M; et al. (1990). "The long-term outcome of patients with glycogen storage diseases". J Inherit Metab Dis. 13 (4): 411–8. PMID 2122109.
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.