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Articoli di riviste sul tema "Glycogen storage disease type III"

Autore: Grafiati

Pubblicato: 14 dicembre 2024

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1

Carvalho, Julene S., Eurem E. Matthews, James V. Leonard, and John Deanfield. "Cardiomyopathy of glycogen storage disease type III." Heart and Vessels 8, no. 3 (1993): 155–59. http://dx.doi.org/10.1007/bf01744800.

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2

Labrune, Philippe, Pascale Trioche, Isabelle Duvaltier, Paquita Chevalier, and Michel Odièvre. "Hepatocellular Adenomas in Glycogen Storage Disease Type I and III: A Series of 43 Patients and Review of the Literature." Journal of Pediatric Gastroenterology and Nutrition 24, no. 3 (1997): 276–79. http://dx.doi.org/10.1002/j.1536-4801.1997.tb00424.x.

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Abstract (sommario):

Background:Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristics of hepatic adenomas in a large series of 43 patients with glycogen storage disease types I and III and to determine the optimal means of follow‐up.Methods:The charts of 43 patients with glycogen storage disease type I and III were studied. In all these patients, abdominal ultrasonography and the determination of serum α‐fetoprotein had been performed yearly and serum concentrations of several proteins were determined once.Results:51.8% of patients with type I and 25% of patients with type III glycogen storage disease had hepatic adenomas at the time of the study. The male to female ratio was 2 to 1 in type I, and no female had adenomas in type III. No evidence of malignant transformation was observed during the follow‐up period. Serum concentrations of several proteins were significantly higher in patients with hepatic adenomas than in patients without such lesions.Conclusions:In patients with glycogen storage disease type I and III, the determination of α‐fetoprotein serum concentration has to be combined with yearly hepatic ultrasound examinations. Other investigations such as CT scan should be considered when the size of any adenoma increases. The malignant transformation of hepatocellular adenoma into hepatocellular carcinoma remains a rare event.

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3

Shen, J., and Y. Chen. "Molecular Characterization of Glycogen Storage Disease Type III." Current Molecular Medicine 2, no. 2 (2002): 167–75. http://dx.doi.org/10.2174/1566524024605752.

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4

Minen, Federico, Gabriele Cont, Angela De Cunto, et al. "Delayed Diagnosis of Glycogen Storage Disease Type III." Journal of Pediatric Gastroenterology and Nutrition 54, no. 1 (2012): 122–24. http://dx.doi.org/10.1097/mpg.0b013e318228d806.

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5

Cleary, M. A., J. H. Walter, B. A. Kerr, and J. E. Wraith. "Facial appearance in glycogen storage disease type III." Clinical Dysmorphology 11, no. 2 (2002): 117–20. http://dx.doi.org/10.1097/00019605-200204000-00008.

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6

MOSES, S. W., N. GADOTH, N. BASHAN, E. BEN-DAVID, A. SLONIM, and K. L. WANDERMAN. "Neuromuscular Involvement in Glycogen Storage Disease Type III." Acta Paediatrica 75, no. 2 (1986): 289–96. http://dx.doi.org/10.1111/j.1651-2227.1986.tb10201.x.

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7

Korlimarla, Aditi, Stephanie Austin, Baodong Sun, and Priya Kishnani. "Hepatic Manifestations in Glycogen Storage Disease Type III." Current Pathobiology Reports 6, no. 4 (2018): 233–40. http://dx.doi.org/10.1007/s40139-018-0182-x.

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8

Liu, Kai-Ming, Jer-Yuarn Wu, and Yuan-Tsong Chen. "Mouse model of glycogen storage disease type III." Molecular Genetics and Metabolism 111, no. 4 (2014): 467–76. http://dx.doi.org/10.1016/j.ymgme.2014.02.005.

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9

Salemi, Vera Maria Cury, Léa Maria Macruz Ferreira Demarchi, Estêvan Vieira Cabeda, Jaqueline Wagenführ, and Ana Cristina Tanaka. "Type III glycogen storage disease mimicking hypertrophic cardiomyopathy." European Heart Journal - Cardiovascular Imaging 13, no. 2 (2011): 197. http://dx.doi.org/10.1093/ejechocard/jer231.

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10

Zimakas, P. J. A. "Glycogen storage disease type III in Inuit children." Canadian Medical Association Journal 172, no. 3 (2005): 355–58. http://dx.doi.org/10.1503/cmaj.1031589.

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11

Moses, S. W., K. L. Wanderman, A. Myroz, and M. Frydman. "Cardiac involvement in glycogen storage disease type III." European Journal of Pediatrics 148, no. 8 (1989): 764–66. http://dx.doi.org/10.1007/bf00443106.

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12

Labrune, Ph, C. Benattar, N. Ammoury, J. Chalas, A. Lindenbaum та M. Odièvre. "Serum Concentrations of Albumin, C‐Reactive Protein, α₂‐Macroglobulin, Prealbumin, Fibronectin, Fibrinogen, Transferrin, and Retinol Binding Protein in 55 Patients with Hepatic Glycogen Storage Diseases". Journal of Pediatric Gastroenterology and Nutrition 18, № 1 (1994): 41–44. http://dx.doi.org/10.1002/j.1536-4801.1994.tb11120.x.

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Abstract (sommario):

Summary:Hepatic glycogen storage diseases are hereditary metabolic disorders involving the metabolism of glycogen. This study was designed to investigate the serum protein status in such diseases. Fifty‐five patients with glycogen storage disease types I, III, VI, and IX, whose ages ranged from 1 month to 27 years, were included in this work. C‐reactive protein, fibrinogen, α2‐macroglobulin, albumin, transferrin, fibronectin, retinol binding protein, and prealbumin serum concentrations were measured in each patient. In patients affected with type I glycogen storage disease, serum concentrations of α2‐macroglobulin, fibrinogen, C‐reactive protein, and transferrin were significantly increased. In patients with types III, VI, and IX glycogen storage diseases, the concentration of α2‐macroglobulin was the only one that was significantly increased. Thus, even though this study raises more questions than it answers, it seems likely that the hepatic synthesis of some proteins may be increased in patients affected by hepatic glycogen storage diseases. This may indicate some degree of mild hepatic dysfunction in such metabolic disorders. However, further investigations are required to elucidate the discrepancies observed among the different types of diseases.

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13

Gharpure, Varsha, Kalyani Raghavan, Meenakshi Mehta, and Alka Kalgutkar. "Glycogen storage disease type IIa." Indian Journal of Pediatrics 63, no. 2 (1996): 259–62. http://dx.doi.org/10.1007/bf02845254.

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14

Fayssoil, Abdallah, Pascal Laforet, Vincent Gajdos, et al. "0224: Cardiac involvement in glycogen storage disease type III." Archives of Cardiovascular Diseases Supplements 8, no. 1 (2016): 35. http://dx.doi.org/10.1016/s1878-6480(16)30109-4.

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15

Oki, Y., M. Okubo, S. Tanaka, K. Nakanishi, T. Kobayashi, and T. Murase. "Diabetes mellitus secondary to glycogen storage disease type III." Diabetic Medicine 17, no. 11 (2000): 810–12. http://dx.doi.org/10.1046/j.1464-5491.2000.00378.x.

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16

Haller, R. G. "Glycogen storage disease type III: The phenotype branches out." Neurology 84, no. 17 (2015): 1726–27. http://dx.doi.org/10.1212/wnl.0000000000001532.

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17

Galvin-Parton, P., and F. A. Hommes. "Abnormal oligosaccharide pattern in glycogen storage disease type III." Journal of Inherited Metabolic Disease 19, no. 3 (1996): 383–84. http://dx.doi.org/10.1007/bf01799279.

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18

Tada, Hiroshi, Takashi Kurita, Tohru Ohe, et al. "Glycogen storage disease type III associated with ventricular tachycardia." American Heart Journal 130, no. 4 (1995): 911–12. http://dx.doi.org/10.1016/0002-8703(95)90097-7.

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19

Hobson-Webb, Lisa D., Stephanie L. Austin, Deeksha S. Bali, and Priya S. Kishnani. "The electrodiagnostic characteristics of Glycogen Storage Disease Type III." Genetics in Medicine 12, no. 7 (2010): 440–45. http://dx.doi.org/10.1097/gim.0b013e3181cd735b.

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20

Kishnani, Priya S., Stephanie L. Austin, Pamela Arn, et al. "Glycogen Storage Disease Type III diagnosis and management guidelines." Genetics in Medicine 12, no. 7 (2010): 446–63. http://dx.doi.org/10.1097/gim.0b013e3181e655b6.

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21

Crushell, Ellen, Eileen P. Treacy, J. Dawe, M. Durkie, and Nicholas J. Beauchamp. "Glycogen storage disease type III in the Irish population." Journal of Inherited Metabolic Disease 33, S3 (2010): 215–18. http://dx.doi.org/10.1007/s10545-010-9096-4.

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22

Spengos, Konstantinos, Helen Michelakakis, Adamantios Vontzalidis, Vasiliki Zouvelou, and Panagiota Manta. "Diabetes mellitus associated with glycogen storage disease type III." Muscle & Nerve 39, no. 6 (2009): 876–77. http://dx.doi.org/10.1002/mus.21201.

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23

Burlina, A. B., S. Piovan, L. Grazian, and F. Zacchello. "MULTIPLE SCLEROSIS IN GLYCOGEN STORAGE DISEASE TYPE III (GSD-III). 842." Pediatric Research 39 (April 1996): 143. http://dx.doi.org/10.1203/00006450-199604001-00864.

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24

Borowitz, Stephen M., and Harry L. Greene. "Cornstarch Therapy in a Patient with Type III Glycogen Storage Disease." Journal of Pediatric Gastroenterology and Nutrition 6, no. 4 (1987): 631–34. http://dx.doi.org/10.1002/j.1536-4801.1987.tb09364.x.

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Abstract (sommario):

SummaryA child with type III glycogen storage disease is described. The patient presented with growth failure and hepatic dysfunction, and no clinical or biochemical evidence of myopathy. Institution of high protein nocturnal intragastric feedings was associated with improved growth and less hepatic dysfunction. Compliance with tube feedings was sporadic necessitating another approach to the patient's management. The use of oral cornstarch supplements enabled the child to maintain normoglycemia and was associated with clinical and biochemical improvement. Our experience with this child suggests cornstarch therapy may be useful in those patients with type III glycogen storage disease who suffer primarily from hepatic dysfunction and growth failure.

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25

Karwowski, Christine, Csaba Galambos, David Finegold, and Benjamin L. Shneider. "Markedly Elevated Serum Transaminases in Glycogen Storage Disease Type III." Journal of Pediatric Gastroenterology and Nutrition 52, no. 5 (2011): 621–23. http://dx.doi.org/10.1097/mpg.0b013e31820e6a55.

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26

Gremse, D. A., J. C. Bucuvalas, and W. F. Balistreri. "Efficacy of cornstarch therapy in type III glycogen-storage disease." American Journal of Clinical Nutrition 52, no. 4 (1990): 671–74. http://dx.doi.org/10.1093/ajcn/52.4.671.

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27

Maire, I., G. Mandon, and M. Mathieu. "First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III." Journal of Inherited Metabolic Disease 12, S2 (1989): 292–94. http://dx.doi.org/10.1007/bf03335402.

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28

Shin, Y. S., M. Rieth, J. Tausenfreund, and W. Endres. "First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III." Journal of Inherited Metabolic Disease 12, S2 (1989): 289–91. http://dx.doi.org/10.1007/bf03335401.

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29

Seol, Jaehee, Seyong Jung, Hong Koh, Jowon Jung, and Yunkoo Kang. "Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center." International Journal of Environmental Research and Public Health 20, no. 3 (2023): 2191. http://dx.doi.org/10.3390/ijerph20032191.

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Abstract (sommario):

Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement. However, cardiac manifestation in other GSD types is unclear. This study aimed to describe whether energy deprivation and the toxic effects of accumulated glycogen affect the heart of patients with GSD. We evaluated the left ventricle (LV) wall mass, LV systolic and diastolic function and myocardial strain with conventional echocardiography and two-dimensional speckle-tracking echocardiography (2D STE) in 62 patients with GSD type I, III, VI and IX who visited the Wonju Severance Hospital in 2021. Among the GSD patients, the echocardiographic parameters of 55 pediatrics were converted into z-scores and analyzed. Of the patients, 43 (62.3%), 7 (11.3%) and 12 (19.4%) patients were diagnosed with GSD type I, type III, and type IX, respectively. The median age was 9 years (range, 1–36 years), with 55 children under 18 years old and seven adults over 18 years. For the 55 pediatric patients, the echocardiographic parameters were converted into a z-score and analyzed. Multiple linear regression analysis showed that the BMI z-score (p = 0.022) and CK (p = 0.020) predicted increased LV mass z-score, regardless of GSD type. There was no difference in the diastolic and systolic functions according to myocardial thickness; however, 2D STE showed a negative correlation with the LV mass (r = −0.28, p = 0.041). Given that patients with GSD tend to be overweight, serial evaluation with echocardiography might be required for all types of GSD.

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30

Ondruskova, Nina, Tomas Honzik, Hana Kolarova, et al. "Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX." Metabolism 82 (May 2018): 135–41. http://dx.doi.org/10.1016/j.metabol.2018.01.004.

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31

Borowitz, Stephen M., and Harry L. Greene. "Cornstarch Therapy in a Patient with Type III Glycogen Storage Disease." Journal of Pediatric Gastroenterology and Nutrition 6, no. 4 (1987): 631–34. http://dx.doi.org/10.1097/00005176-198707000-00024.

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32

Kaji, M. "A case of Costello syndrome and glycogen storage disease type III." Journal of Medical Genetics 39, no. 2 (2002): 8e—8. http://dx.doi.org/10.1136/jmg.39.2.e8.

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33

Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III." Clinical Dysmorphology 12, no. 3 (2003): 213. http://dx.doi.org/10.1097/00019605-200307000-00017.

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34

BHATTI, Shazia, and Emma PARRY. "Successful pregnancy in a woman with glycogen storage disease type III." Australian and New Zealand Journal of Obstetrics and Gynaecology 46, no. 2 (2006): 168–69. http://dx.doi.org/10.1111/j.1479-828x.2006.00549.x.

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35

Hershkovitz, E., A. Donald, M. Mullen, P. J. Lee, and J. V. Leonard. "Blood lipids and endothelial function in glycogen storage disease type III." Journal of Inherited Metabolic Disease 22, no. 8 (1999): 891–98. http://dx.doi.org/10.1023/a:1005687323096.

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36

Lee, P., M. Burch, and J. V. Leonard. "Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III." Journal of Inherited Metabolic Disease 18, no. 6 (1995): 751–52. http://dx.doi.org/10.1007/bf02436768.

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37

Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III." Clinical Dysmorphology 12, no. 3 (2003): 213. http://dx.doi.org/10.1097/01.mcd.0000052342.43310.35.

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38

Pagliarani, Serena, Sabrina Lucchiari, Gianna Ulzi, et al. "Glycogen storage disease type III: A novel Agl knockout mouse model." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1842, no. 11 (2014): 2318–28. http://dx.doi.org/10.1016/j.bbadis.2014.07.029.

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39

Demo, Erin, Donald Frush, Marcia Gottfried, et al. "Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?" Journal of Hepatology 46, no. 3 (2007): 492–98. http://dx.doi.org/10.1016/j.jhep.2006.09.022.

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40

Herlin, Bastien, Pascal Laforět, Philippe Labrune, Emmanuel Fournier, and Tanya Stojkovic. "Peripheral neuropathy in glycogen storage disease type III: Fact or myth?" Muscle & Nerve 53, no. 2 (2015): 310–12. http://dx.doi.org/10.1002/mus.24977.

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41

Ding, Jia-Huan, T. de Barsy, Barbara I. Brown, Rosalind A. Coleman, and Yuan-Tsong Chen. "Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III." Journal of Pediatrics 116, no. 1 (1990): 95–100. http://dx.doi.org/10.1016/s0022-3476(05)81652-x.

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42

Kishnani, Priya S., Baodong Sun, and Dwight D. Koeberl. "Gene therapy for glycogen storage diseases." Human Molecular Genetics 28, R1 (2019): R31—R41. http://dx.doi.org/10.1093/hmg/ddz133.

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Abstract (sommario):

AbstractThe focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease. The lack of specific therapy for the GSDs has driven efforts to develop new therapies for these conditions. Gene therapy needs to replace deficient enzymes in target tissues, which has guided the planning of gene therapy experiments. Gene therapy with adeno-associated virus (AAV) vectors has demonstrated appropriate tropism for target tissues, including the liver, heart and skeletal muscle in animal models for GSD. AAV vectors transduced liver and kidney in GSD Ia and striated muscle in GSD II mice to replace the deficient enzyme in each disease. Gene therapy has been advanced to early phase clinical trials for the replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease). Other GSDs have been treated in proof-of-concept studies, including GSD III, IV and V. The future of gene therapy appears promising for the GSDs, promising to provide more efficacious therapy for these disorders in the foreseeable future.

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43

Artan, R., O. P. van Diggelen, and J. G. M. Huijmans. "Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy." Journal of Inherited Metabolic Disease 21, no. 4 (1998): 437–38. http://dx.doi.org/10.1023/a:1005331414257.

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44

Preisler, Nicolai, Agnès Pradel, Edith Husu, et al. "Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?" Molecular Genetics and Metabolism 109, no. 1 (2013): 14–20. http://dx.doi.org/10.1016/j.ymgme.2013.02.008.

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45

Mishori-Dery, A., N. Bashan, S. Moses, et al. "RFLPs for linkage analysis in families with glycogen storage disease type III." Journal of Inherited Metabolic Disease 18, no. 2 (1995): 207–10. http://dx.doi.org/10.1007/bf00711768.

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46

Larizza, D., G. Maggiore, D. Marzani, M. Maghnie, and R. Ciceri. "Difficult hGH treatment in a patient with type III glycogen storage disease." European Journal of Pediatrics 145, no. 1-2 (1986): 84–85. http://dx.doi.org/10.1007/bf00441862.

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47

Derks, Terry G. J., and G. Peter A. Smit. "Dietary management in glycogen storage disease type III: what is the evidence?" Journal of Inherited Metabolic Disease 38, no. 3 (2014): 545–50. http://dx.doi.org/10.1007/s10545-014-9756-x.

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48

Sentner, Christiaan P., Irene J. Hoogeveen, David A. Weinstein, et al. "Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome." Journal of Inherited Metabolic Disease 39, no. 5 (2016): 697–704. http://dx.doi.org/10.1007/s10545-016-9932-2.

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49

Anwar, Sayeeda, AKM Matiur Rahaman, Abdul Matin, Dipa Saha, and Maliha Rashid. "Glycogen Storage Disease Type III-Coris Disease: A Case Report and Review Literature." Bangladesh Journal of Child Health 39, no. 3 (2017): 161–63. http://dx.doi.org/10.3329/bjch.v39i3.31584.

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50

Jahun, Mahmud Gambo, and Umar Isa Umar. "Glycogen Storage Disease Type III Presenting as Recurrent Seizure Disorder in a Second Twin: A Case Report." Bayero Journal of Nursing and Health Care 5, no. 1 (2023): 1185–90. http://dx.doi.org/10.4314/bjnhc.v5i1.8.

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Abstract (sommario):

Glycogen storage diseases (GSDs) are a group of genetic autosomal recessive metabolic disorders resulting from deficiencies of enzymes of glycogen metabolism occurring in the liver, muscles or kidneys. Various types and sub-types exist based on genetic classification presenting with symptoms and signs of hypoglycaemia, hepatomegaly and myopathy depending on severity, and age of onset. A high index of suspicion is required for the diagnosis of GSDs. An eighteen-month-old girl who was apparently healthy with normal development was without any abnormality until about 12 months of age when she had the first episode of afebrile seizure which was treated with sodium valproate but continued to have occasional seizures. She had a status seizure, which was only aborted with a glucose infusion. Intra-ictal incident glucose level was 1.4mmol/L. Biochemical investigation revealed deranged liver enzymes, normal serum cortisol, C-peptide and insulin. Liver histology showed features consistent with GSD III and diagnosis of glycogen storage disease type III was made based on the liver histology and other supportive laboratory features. Following dietary management, the child responded very well, was seizure-free and off anticonvulsant therapy. This case highlights the occurrence of symptomatic seizures due to factors other than epilepsy.

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