Skip to main content
Erschienen in: Journal of Inherited Metabolic Disease 6/2018

24.07.2018 | Glycogen Storage Disease

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy

verfasst von: Elizabeth D. Brooks, Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, John D’Angelo, Yohannes G. Asfaw, Kyha Williams, Priya S. Kishnani, Dwight D. Koeberl

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 6/2018

Einloggen, um Zugang zu erhalten

Abstract

Background

Glycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of human patients on intensive nutritional management has improved; however, long-term complications persist including renal failure, nephrolithiasis, hepatocellular adenomas (HCA), and a high risk for hepatocellular carcinoma (HCC). Affected dogs fail to thrive with dietary therapy alone. Treatment with gene replacement therapy using adeno-associated viral vectors (AAV) expressing G6Pase has greatly prolonged life and prevented hypoglycemia in affected dogs. However, long-term complications have not been described to date.

Methods

Five GSD Ia-affected dogs treated with AAV-G6Pase were evaluated. Dogs were euthanized due to reaching humane endpoints related to liver and/or kidney involvement, at 4 to 8 years of life. Necropsies were performed and tissues were analyzed.

Results

Four dogs had liver tumors consistent with HCA and HCC. Three dogs developed renal failure, but all dogs exhibited progressive kidney disease histologically. Urolithiasis was detected in two dogs; uroliths were composed of calcium oxalate and calcium phosphate. One affected and one carrier dog had polycystic ovarian disease. Bone mineral density was not significantly affected.

Conclusions

Here, we show that the canine GSD Ia model demonstrates similar long-term complications as GSD Ia patients in spite of gene replacement therapy. Further development of gene therapy is needed to develop a more effective treatment to prevent long-term complications of GSD Ia.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
Zurück zum Zitat Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS (2013) Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol 122:1246–1254CrossRefPubMed Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS (2013) Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol 122:1246–1254CrossRefPubMed
Zurück zum Zitat Baheti AD, Yeh MM, O'Malley R, Lalwani N (2015) Malignant transformation of hepatic adenoma in glycogen storage disease type-1a: report of an exceptional case diagnosed on surveillance imaging. J Clin Imaging Sci 5:47CrossRefPubMedPubMedCentral Baheti AD, Yeh MM, O'Malley R, Lalwani N (2015) Malignant transformation of hepatic adenoma in glycogen storage disease type-1a: report of an exceptional case diagnosed on surveillance imaging. J Clin Imaging Sci 5:47CrossRefPubMedPubMedCentral
Zurück zum Zitat Bali DS, Chen YT, Austin S, Goldstein JL (1993) In: Adam MP, Ardinger HH, Pagon RA et al (eds) Glycogen storage disease type I. GeneReviews((R)), Seattle Bali DS, Chen YT, Austin S, Goldstein JL (1993) In: Adam MP, Ardinger HH, Pagon RA et al (eds) Glycogen storage disease type I. GeneReviews((R)), Seattle
Zurück zum Zitat Brooks ED, Little D, Arumugam R et al (2013) Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab 109:161–170CrossRefPubMedPubMedCentral Brooks ED, Little D, Arumugam R et al (2013) Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab 109:161–170CrossRefPubMedPubMedCentral
Zurück zum Zitat Calderaro J, Labrune P, Morcrette G et al (2013) Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol 58:350–357CrossRefPubMed Calderaro J, Labrune P, Morcrette G et al (2013) Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol 58:350–357CrossRefPubMed
Zurück zum Zitat Carreiro G, Villela-Nogueira CA, Coelho H et al (2007) Orthotopic liver transplantation in glucose-6-phosphatase deficiency—Von Gierke disease—with multiple hepatic adenomas and concomitant focal nodular hyperplasia. J Pediatr Endocrinol Metab 20:545–549CrossRefPubMed Carreiro G, Villela-Nogueira CA, Coelho H et al (2007) Orthotopic liver transplantation in glucose-6-phosphatase deficiency—Von Gierke disease—with multiple hepatic adenomas and concomitant focal nodular hyperplasia. J Pediatr Endocrinol Metab 20:545–549CrossRefPubMed
Zurück zum Zitat Chang CY, Hernandez-Prera JC, Roayaie S, Schwartz M, Thung SN (2013) Changing epidemiology of hepatocellular adenoma in the United States: review of the literature. Int J Hepatol 2013:604860 Chang CY, Hernandez-Prera JC, Roayaie S, Schwartz M, Thung SN (2013) Changing epidemiology of hepatocellular adenoma in the United States: review of the literature. Int J Hepatol 2013:604860
Zurück zum Zitat Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1521–1551 Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1521–1551
Zurück zum Zitat Crane B, Luo X, Demaster A et al (2012) Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther 19:443–452CrossRefPubMed Crane B, Luo X, Demaster A et al (2012) Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther 19:443–452CrossRefPubMed
Zurück zum Zitat Cunningham SC, Dane AP, Spinoulas A, Logan GJ, Alexander IE (2008) Gene delivery to the juvenile mouse liver using AAV2/8 vectors. Mol Ther 16:1081–1088CrossRefPubMed Cunningham SC, Dane AP, Spinoulas A, Logan GJ, Alexander IE (2008) Gene delivery to the juvenile mouse liver using AAV2/8 vectors. Mol Ther 16:1081–1088CrossRefPubMed
Zurück zum Zitat Demaster A, Luo X, Curtis S et al (2012) Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther 23:407–418CrossRefPubMed Demaster A, Luo X, Curtis S et al (2012) Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther 23:407–418CrossRefPubMed
Zurück zum Zitat Derks TG, van Rijn M (2015) Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis 38:537–543CrossRefPubMedPubMedCentral Derks TG, van Rijn M (2015) Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis 38:537–543CrossRefPubMedPubMedCentral
Zurück zum Zitat Di Rocco M, Calevo MG, Taro M, Melis D, Allegri AE, Parenti G (2008) Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Mol Genet Metab 93:398–402CrossRefPubMed Di Rocco M, Calevo MG, Taro M, Melis D, Allegri AE, Parenti G (2008) Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Mol Genet Metab 93:398–402CrossRefPubMed
Zurück zum Zitat Dingemanse W, Muller-Gerbl M, Jonkers I, Sloten JV, van Bree H, Gielen I (2017) A prospective follow up of age related changes in the subchondral bone density of the talus of healthy Labrador Retrievers. BMC Vet Res 13:57CrossRefPubMedPubMedCentral Dingemanse W, Muller-Gerbl M, Jonkers I, Sloten JV, van Bree H, Gielen I (2017) A prospective follow up of age related changes in the subchondral bone density of the talus of healthy Labrador Retrievers. BMC Vet Res 13:57CrossRefPubMedPubMedCentral
Zurück zum Zitat Evans HE, Miller ME (2013) Miller’s anatomy of the dog. Elsevier, St. Louis Evans HE, Miller ME (2013) Miller’s anatomy of the dog. Elsevier, St. Louis
Zurück zum Zitat Fabry A, Benjamin SA, Angleton GM (1982) Nodular hyperplasia of the liver in the beagle dog. Vet Pathol 19:109–119CrossRefPubMed Fabry A, Benjamin SA, Angleton GM (1982) Nodular hyperplasia of the liver in the beagle dog. Vet Pathol 19:109–119CrossRefPubMed
Zurück zum Zitat Farah BL, Landau DJ, Sinha RA et al (2016) Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency. J Hepatol 64:370–379CrossRefPubMed Farah BL, Landau DJ, Sinha RA et al (2016) Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency. J Hepatol 64:370–379CrossRefPubMed
Zurück zum Zitat Franco LM, Krishnamurthy V, Bali D et al (2005) Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 28:153–162CrossRefPubMed Franco LM, Krishnamurthy V, Bali D et al (2005) Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 28:153–162CrossRefPubMed
Zurück zum Zitat Gjorgjieva M, Raffin M, Duchampt A et al (2016) Progressive development of renal cysts in glycogen storage disease type I. Hum Mol Genet 25:3784–3797CrossRefPubMed Gjorgjieva M, Raffin M, Duchampt A et al (2016) Progressive development of renal cysts in glycogen storage disease type I. Hum Mol Genet 25:3784–3797CrossRefPubMed
Zurück zum Zitat Jonges GN, Van Noorden CJ, Gossrau R (1990) Quantitative histochemical analysis of glucose-6-phosphatase activity in rat liver using an optimized cerium-diaminobenzidine method. J Histochem Cytochem 38:1413–1419CrossRefPubMed Jonges GN, Van Noorden CJ, Gossrau R (1990) Quantitative histochemical analysis of glucose-6-phosphatase activity in rat liver using an optimized cerium-diaminobenzidine method. J Histochem Cytochem 38:1413–1419CrossRefPubMed
Zurück zum Zitat Kelly PM, Poon FW (2001) Hepatic tumours in glycogen storage disease type 1 (von Gierke’s disease). Clin Radiol 56:505–508CrossRefPubMed Kelly PM, Poon FW (2001) Hepatic tumours in glycogen storage disease type 1 (von Gierke’s disease). Clin Radiol 56:505–508CrossRefPubMed
Zurück zum Zitat Kishnani PS, Faulkner E, VanCamp S et al (2001) Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol 38:83–91CrossRefPubMed Kishnani PS, Faulkner E, VanCamp S et al (2001) Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol 38:83–91CrossRefPubMed
Zurück zum Zitat Kishnani PS, Chuang TP, Bali D et al (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet 18:4781–4790CrossRefPubMed Kishnani PS, Chuang TP, Bali D et al (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet 18:4781–4790CrossRefPubMed
Zurück zum Zitat Kishnani PS, Austin SL, Abdenur JE et al (2014) Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16:e1CrossRefPubMed Kishnani PS, Austin SL, Abdenur JE et al (2014) Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16:e1CrossRefPubMed
Zurück zum Zitat Koeberl DD, Sun BD, Damodaran TV et al (2006) Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther 13:1281–1289CrossRefPubMed Koeberl DD, Sun BD, Damodaran TV et al (2006) Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther 13:1281–1289CrossRefPubMed
Zurück zum Zitat Koeberl DD, Pinto C, Sun B et al (2008) AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16:665–672CrossRefPubMed Koeberl DD, Pinto C, Sun B et al (2008) AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16:665–672CrossRefPubMed
Zurück zum Zitat Koeberl DD, Kishnani PS, Bali D, Chen YT (2009) Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab 20:252–258CrossRefPubMed Koeberl DD, Kishnani PS, Bali D, Chen YT (2009) Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab 20:252–258CrossRefPubMed
Zurück zum Zitat Korljan Jelaska B, Ostojic SB, Berovic N, Kokic V (2013) Continuous glucose monitoring in the treatment of obesity in patients with glycogen storage disease type Ia. Endocrinol Diabetes Metab Case Rep 2013:130056PubMedPubMedCentral Korljan Jelaska B, Ostojic SB, Berovic N, Kokic V (2013) Continuous glucose monitoring in the treatment of obesity in patients with glycogen storage disease type Ia. Endocrinol Diabetes Metab Case Rep 2013:130056PubMedPubMedCentral
Zurück zum Zitat Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre 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 24:276–279CrossRefPubMed Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre 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 24:276–279CrossRefPubMed
Zurück zum Zitat Landau DJ, Brooks ED, Perez-Pinera P et al (2016) In vivo zinc finger nuclease-mediated targeted integration of a glucose-6-phosphatase transgene promotes survival in mice with glycogen storage disease type IA. Mol Ther 24:697–706CrossRefPubMedPubMedCentral Landau DJ, Brooks ED, Perez-Pinera P et al (2016) In vivo zinc finger nuclease-mediated targeted integration of a glucose-6-phosphatase transgene promotes survival in mice with glycogen storage disease type IA. Mol Ther 24:697–706CrossRefPubMedPubMedCentral
Zurück zum Zitat Lawrence NT, Chengsupanimit T, Brown LM, Weinstein DA (2015) High incidence of serologic markers of inflammatory bowel disease in asymptomatic patients with glycogen storage disease type Ia. JIMD Rep 24:123–128CrossRefPubMedPubMedCentral Lawrence NT, Chengsupanimit T, Brown LM, Weinstein DA (2015) High incidence of serologic markers of inflammatory bowel disease in asymptomatic patients with glycogen storage disease type Ia. JIMD Rep 24:123–128CrossRefPubMedPubMedCentral
Zurück zum Zitat Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995) The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol 42:601–606CrossRef Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995) The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol 42:601–606CrossRef
Zurück zum Zitat Lee YM, Jun HS, Pan CJ et al (2012) Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology 56:1719–1729CrossRefPubMedPubMedCentral Lee YM, Jun HS, Pan CJ et al (2012) Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology 56:1719–1729CrossRefPubMedPubMedCentral
Zurück zum Zitat Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY (2013) The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Mol Genet Metab 110:275–280CrossRefPubMedPubMedCentral Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY (2013) The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Mol Genet Metab 110:275–280CrossRefPubMedPubMedCentral
Zurück zum Zitat Lennartson G, Lundblad A, Sjoblad S, Svensson S, Ockerman PA (1976) Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry. Biomed Mass Spectrom 3:51–54CrossRefPubMed Lennartson G, Lundblad A, Sjoblad S, Svensson S, Ockerman PA (1976) Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry. Biomed Mass Spectrom 3:51–54CrossRefPubMed
Zurück zum Zitat Luo X, Hall G, Li S et al (2011) Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. Mol Ther 19:1961–1970CrossRefPubMedPubMedCentral Luo X, Hall G, Li S et al (2011) Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. Mol Ther 19:1961–1970CrossRefPubMedPubMedCentral
Zurück zum Zitat Manzia TM, Angelico R, Toti L et al (2011) Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports. Transplant Proc 43:1181–1183CrossRefPubMed Manzia TM, Angelico R, Toti L et al (2011) Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports. Transplant Proc 43:1181–1183CrossRefPubMed
Zurück zum Zitat Melis D, Rossi A, Pivonello R et al (2015) Glycogen storage disease type Ia (GSDIa) but not glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. Orphanet J Rare Dis 10:91CrossRefPubMedPubMedCentral Melis D, Rossi A, Pivonello R et al (2015) Glycogen storage disease type Ia (GSDIa) but not glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. Orphanet J Rare Dis 10:91CrossRefPubMedPubMedCentral
Zurück zum Zitat Minarich LA, Kirpich A, Fiske LM, Weinstein DA (2012) Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med Minarich LA, Kirpich A, Fiske LM, Weinstein DA (2012) Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med
Zurück zum Zitat Moraru E, Cuvinciuc O, Antonesei L et al (2007) Glycogen storage disease type I—between chronic ambulatory follow-up and pediatric emergency. J Gastrointestin Liver Dis 16:47–51PubMed Moraru E, Cuvinciuc O, Antonesei L et al (2007) Glycogen storage disease type I—between chronic ambulatory follow-up and pediatric emergency. J Gastrointestin Liver Dis 16:47–51PubMed
Zurück zum Zitat Mutel E, Abdul-Wahed A, Ramamonjisoa N et al (2011) Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. J Hepatol 54:529–537CrossRefPubMed Mutel E, Abdul-Wahed A, Ramamonjisoa N et al (2011) Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. J Hepatol 54:529–537CrossRefPubMed
Zurück zum Zitat Nathwani AC, Tuddenham EG, Rangarajan S et al (2011) Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365:2357–2365CrossRefPubMedPubMedCentral Nathwani AC, Tuddenham EG, Rangarajan S et al (2011) Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365:2357–2365CrossRefPubMedPubMedCentral
Zurück zum Zitat Oberholzer K, Sewell AC (1990) Unique oligosaccharide (apparently glucotetrasaccharide) in urine of patients with glycogen storage diseases. Clin Chem 36:1381PubMed Oberholzer K, Sewell AC (1990) Unique oligosaccharide (apparently glucotetrasaccharide) in urine of patients with glycogen storage diseases. Clin Chem 36:1381PubMed
Zurück zum Zitat Okechuku GO, Shoemaker LR, Dambska M, Brown LM, Mathew J, Weinstein DA (2017) Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy. J Inherit Metab Dis 40:703–708CrossRefPubMed Okechuku GO, Shoemaker LR, Dambska M, Brown LM, Mathew J, Weinstein DA (2017) Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy. J Inherit Metab Dis 40:703–708CrossRefPubMed
Zurück zum Zitat Patnaik AK, Hurvitz AI, Lieberman PH, Johnson GF (1981) Canine hepatocellular carcinoma. Vet Pathol 18:427–438CrossRefPubMed Patnaik AK, Hurvitz AI, Lieberman PH, Johnson GF (1981) Canine hepatocellular carcinoma. Vet Pathol 18:427–438CrossRefPubMed
Zurück zum Zitat Penhoat A, Fayard L, Stefanutti A, Mithieux G, Rajas F (2014) Intestinal gluconeogenesis is crucial to maintain a physiological fasting glycemia in the absence of hepatic glucose production in mice. Metabolism 63:104–111CrossRefPubMed Penhoat A, Fayard L, Stefanutti A, Mithieux G, Rajas F (2014) Intestinal gluconeogenesis is crucial to maintain a physiological fasting glycemia in the absence of hepatic glucose production in mice. Metabolism 63:104–111CrossRefPubMed
Zurück zum Zitat 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–S34CrossRefPubMed 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–S34CrossRefPubMed
Zurück zum Zitat Reddy SK, Kishnani PS, Sullivan JA et al (2007) Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J Hepatol 47:658–663CrossRefPubMed Reddy SK, Kishnani PS, Sullivan JA et al (2007) Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J Hepatol 47:658–663CrossRefPubMed
Zurück zum Zitat Sakellariou S, Al-Hussaini H, Scalori A et al (2012) Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study. Histopathology 60:E58–E65CrossRefPubMed Sakellariou S, Al-Hussaini H, Scalori A et al (2012) Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study. Histopathology 60:E58–E65CrossRefPubMed
Zurück zum Zitat Schneider S, Breit SM, Grampp S et al (2004) Comparative assessment of bone mineral measurements obtained by use of dual-energy x-ray absorptiometry, peripheral quantitative computed tomography, and chemical-physical analyses in femurs of juvenile and adult dogs. Am J Vet Res 65:891–900CrossRefPubMed Schneider S, Breit SM, Grampp S et al (2004) Comparative assessment of bone mineral measurements obtained by use of dual-energy x-ray absorptiometry, peripheral quantitative computed tomography, and chemical-physical analyses in femurs of juvenile and adult dogs. Am J Vet Res 65:891–900CrossRefPubMed
Zurück zum Zitat Sechi A, Deroma L, Lapolla A et al (2013) Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis 36:83–89CrossRefPubMed Sechi A, Deroma L, Lapolla A et al (2013) Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis 36:83–89CrossRefPubMed
Zurück zum Zitat Sever S, Weinstein DA, Wolfsdorf JI, Gedik R, Schaefer EJ (2012) Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. J Clin Lipidol 6:596–600CrossRefPubMed Sever S, Weinstein DA, Wolfsdorf JI, Gedik R, Schaefer EJ (2012) Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. J Clin Lipidol 6:596–600CrossRefPubMed
Zurück zum Zitat Shestopaloff YK (2014) Method for finding metabolic properties based on the general growth law. Liver examples. A general framework for biological modeling. PLoS One 9:e99836CrossRefPubMedPubMedCentral Shestopaloff YK (2014) Method for finding metabolic properties based on the general growth law. Liver examples. A general framework for biological modeling. PLoS One 9:e99836CrossRefPubMedPubMedCentral
Zurück zum Zitat Sluiter W, van den Bosch JC, Goudriaan DA et al (2012) Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem 58:1139–1147CrossRefPubMed Sluiter W, van den Bosch JC, Goudriaan DA et al (2012) Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem 58:1139–1147CrossRefPubMed
Zurück zum Zitat Sun B, Li S, Yang L et al (2009) Activation of glycolysis and apoptosis in glycogen storage disease type Ia. Mol Genet Metab 97:267–271CrossRefPubMed Sun B, Li S, Yang L et al (2009) Activation of glycolysis and apoptosis in glycogen storage disease type Ia. Mol Genet Metab 97:267–271CrossRefPubMed
Zurück zum Zitat Talente GM, Coleman RA, Alter C et al (1994) Glycogen storage disease in adults. Ann Intern Med 120:218–226CrossRefPubMed Talente GM, Coleman RA, Alter C et al (1994) Glycogen storage disease in adults. Ann Intern Med 120:218–226CrossRefPubMed
Zurück zum Zitat van Dijk TH, Laskewitz AJ, Grefhorst A et al (2013) A novel approach to monitor glucose metabolism using stable isotopically labelled glucose in longitudinal studies in mice. Lab Anim 47:79–88CrossRefPubMed van Dijk TH, Laskewitz AJ, Grefhorst A et al (2013) A novel approach to monitor glucose metabolism using stable isotopically labelled glucose in longitudinal studies in mice. Lab Anim 47:79–88CrossRefPubMed
Zurück zum Zitat Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP (2002) Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 25:261–267CrossRefPubMed Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP (2002) Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 25:261–267CrossRefPubMed
Zurück zum Zitat Volmar KE, Burchette JL, Creager AJ (2003) Hepatic adenomatosis in glycogen storage disease type Ia: report of a case with unusual histology. Arch Pathol Lab Med 127:e402–e405PubMed Volmar KE, Burchette JL, Creager AJ (2003) Hepatic adenomatosis in glycogen storage disease type Ia: report of a case with unusual histology. Arch Pathol Lab Med 127:e402–e405PubMed
Zurück zum Zitat Wang DQ, Carreras CT, Fiske LM et al (2012) Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med 14:795–799CrossRefPubMed Wang DQ, Carreras CT, Fiske LM et al (2012) Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med 14:795–799CrossRefPubMed
Zurück zum Zitat Weinstein DA, Correia CE, Conlon T et al (2010) Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21:903–910CrossRefPubMedPubMedCentral Weinstein DA, Correia CE, Conlon T et al (2010) Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21:903–910CrossRefPubMedPubMedCentral
Zurück zum Zitat Yiu WH, Lee YM, Peng WT et al (2010) Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol Ther 18:1076–1084CrossRefPubMedPubMedCentral Yiu WH, Lee YM, Peng WT et al (2010) Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol Ther 18:1076–1084CrossRefPubMedPubMedCentral
Metadaten
Titel
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
verfasst von
Elizabeth D. Brooks
Dustin J. Landau
Jeffrey I. Everitt
Talmage T. Brown
Kylie M. Grady
Lauren Waskowicz
Cameron R. Bass
John D’Angelo
Yohannes G. Asfaw
Kyha Williams
Priya S. Kishnani
Dwight D. Koeberl
Publikationsdatum
24.07.2018
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 6/2018
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-018-0223-y

Weitere Artikel der Ausgabe 6/2018

Journal of Inherited Metabolic Disease 6/2018 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.