Glycogen storage disease type III pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
- Glycogen storage disease type 3 (GSD 3) results due to deficiency of glycogen debrancher enzyme.
- GSD type 3a is due to the deficiency of enzyme glycogen debrancher enzyme in both liver and muscle.
- GSD type 3b is due to the deficiency of enzyme glycogen debrancher enzyme in liver only.
Mechanism of hypoglycemia
- Glycogen debrancher enzyme in the liver and muscle.[1][2]
- Glucose-6-phosphatase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis.
- This defects hinders the conversion of
- This leads to accumulation of glycogen in organs including liver and muscle.
- The inability of glucose to leave cells leads to fasting hypoglycemia.
- This also results in the development of various secondary metabolic and biochemical abnormalities.
Hepatomegaly and liver disorders
- Impairment of glycogenolysis leads to the accumulation of fat and glycogen deposition resulting in characteristic hepatomegaly.
- Hepatomegaly is more pronounced when the child is young and decreases as the age progresses. The hepatomegaly leads to protrusion of the abdomen.
- Patients with GSD type 2 may develop hepatic lesions including:[3][4][5][6][7]
Myopathy
- The following different phenotypes of myopathy are described in glycogen storage disease type 3:[8]
- Adult onset distal myopathy
- Subacute myopathy of the respiratory muscles
- Severe generalized myopathy
- Minimal variant myopathy
- Exercise intolerance is usually not present
Genetics
- [Disease name] is transmitted in [mode of genetic transmission] pattern.
- Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
- The development of [disease name] is the result of multiple genetic mutations.
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, the features of glycogen storage disease type 1 include:
- Liver
- Early disease
- Distension of hepatocytes by glycogen
- Periportal septal fibrosis
- Late disease
- Steatosis
- Hepatocyte ballooning
- Eventually centrilobular and portal-based fibrosis
- Early disease
Endomyocardial biopsy specimen, glycogen deposition in myocytes and no myocyte disarray.[9]
References
- ↑ 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.
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D; et al. (2007). "Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?". J Hepatol. 46 (3): 492–8. doi:10.1016/j.jhep.2006.09.022. PMC 2683272. PMID 17196294.
- ↑ Labrune P, Trioche P, Duvaltier I, Chevalier P, Odièvre M (1997). "Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature". J Pediatr Gastroenterol Nutr. 24 (3): 276–9. PMID 9138172.
- ↑ Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A; et al. (1999). "Liver transplantation for glycogen storage disease types I, III, and IV". Eur J Pediatr. 158 Suppl 2: S43–8. PMC 3006437. PMID 10603098.
- ↑ Siciliano M, De Candia E, Ballarin S, Vecchio FM, Servidei S, Annese R; et al. (2000). "Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease". J Clin Gastroenterol. 31 (1): 80–2. PMID 10914784.
- ↑ Cosme A, Montalvo I, Sánchez J, Ojeda E, Torrado J, Zapata E; et al. (2005). "[Type III glycogen storage disease associated with hepatocellular carcinoma]". Gastroenterol Hepatol. 28 (10): 622–5. PMID 16373012.
- ↑ Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B; et al. (1999). "Different clinical aspects of debrancher deficiency myopathy". J Neurol Neurosurg Psychiatry. 67 (3): 364–8. PMC 1736538. PMID 10449560.
- ↑ Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV (1984). "Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy". Am J Cardiol. 53 (7): 980–1. PMID 6584026.