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Glycogen Storage Disease Type IIb

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An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATION. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Also Known As:

Danon Disease; Glycogen Storage Cardiomyopathy; Glycogen Storage Disease IIb; Glycogen Storage Disease Type 2B; Vacuolar Cardiomyopathy and Myopathy, X-linked; X-Linked Vacuolar Cardiomyopathy and Myopathy; Cardiomyopathies, Glycogen Storage; Cardiomyopathy, Glycogen Storage; Glycogen Storage Cardiomyopathies; Storage Cardiomyopathy, Glycogen

Networked: 57 relevant articles (1 outcomes, 3 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Cardiomyopathies (Cardiomyopathy)
3.	Mental Retardation (Idiocy)
4.	Glycogen Storage Disease Type II (Pompe's Disease)
5.	Glycogen Storage Disease (Glycogenosis)

Experts

1.	Nishino, Ichizo: 10 articles (06/2015 - 01/2003)
2.	Ahmad, Ferhaan: 6 articles (08/2014 - 06/2003)
3.	Seidman, Christine E: 4 articles (03/2009 - 06/2003)
4.	Arad, Michael: 4 articles (03/2009 - 06/2003)
5.	Banerjee, Sanjay K: 3 articles (10/2010 - 08/2007)
6.	Seidman, J G: 3 articles (01/2008 - 06/2003)
7.	Furuta, Akiko: 2 articles (06/2015 - 03/2015)
8.	Fang, Quan: 2 articles (07/2012 - 03/2012)
9.	Cheng, Zhongwei: 2 articles (07/2012 - 03/2012)
10.	Boucek, Dana: 2 articles (06/2011 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type IIb:

1.	Free RadicalsIBA 07/01/2015 - "Scavenging excessive free radicals with antioxidants may be beneficial for patients with Danon disease. "
2.	AntioxidantsIBA 07/01/2015 - "Scavenging excessive free radicals with antioxidants may be beneficial for patients with Danon disease. "
3.	GadoliniumIBA 01/01/2009 - "We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies." 12/01/2011 - "Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging."
4.	Carbonic Anhydrase InhibitorsIBA 12/01/2014 - "A 37-year-old Caucasian man with Danon disease treated with topical and oral carbonic anhydrase inhibitors participated in the study. "
5.	Membrane Proteins (Integral Membrane Proteins)IBA 03/01/2015 - "Danon disease is caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein 2 (LAMP-2), a single-spanned transmembrane protein localized in the limiting membranes of lysosomes and late endosomes. " 07/01/2012 - "Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. " 01/01/2010 - "Danon disease is caused by primary deficiency of a lysosomal membrane protein, LAMP-2. " 01/01/2003 - "Danon disease, the best-characterized disorder in this group, is caused by primary deficiency of a lysosomal membrane protein, LAMP-2. " 07/01/2015 - "Danon disease is a familial cardiomyopathy associated with impaired autophagy due to mutations in the gene encoding lysosomal-associated membrane protein type 2 (LAMP-2). "
6.	Vacuolar myopathyIBA 11/01/2007 - "Danon disease as a cause of autophagic vacuolar myopathy." 01/01/2007 - "Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease." 09/11/2001 - "Infantile autophagic vacuolar myopathy is distinct from Danon disease." 06/01/2015 - "Lysosome-associated membrane protein-2 (LAMP-2) is the gene responsible for Danon disease, which is characterized by cardiomyopathy, autophagic vacuolar myopathy, and variable mental retardation. " 06/01/2006 - "Hereditary autophagic vacuolar myopathy (AVM) may occur in several diseases including the rimmed vacuolar myopathies, acid maltase deficiency, Danon disease, infantile autophagic vacuolar myopathy and X-linked myopathy with excessive autophagy (XMEA). "
7.	alpha-Glucosidases (Acid Maltase)IBA 11/01/2007 - "Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. " 01/01/2007 - "Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. " 10/08/1998 - "These findings were consistent with those seen in lysosomal glycogen storage disease with normal acid maltase (Danon disease). " 07/01/2008 - "Danon disease is an X-linked cardioskeletal myopathy, originally reported as "lysosomal glycogen storage disease with normal acid maltase," resulting from a primary deficiency of lysosome-associated membrane protein-2 because of mutations in the lysosome-associated membrane protein-2 gene. " 06/01/2006 - "However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathies (AVMs), of which Danon disease, originally called "lysosomal glycogen storage disease with normal acid maltase," is the best known entity. "
8.	AMP-Activated Protein KinasesIBA 10/01/2010 - "Human mutations in the gene PRKAG2 encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) cause a glycogen storage cardiomyopathy. " 02/01/2010 - "Human mutations in PRKAG2, the gene encoding the gamma2 subunit of AMP activated protein kinase (AMPK), cause a glycogen storage cardiomyopathy. " 08/24/2007 - "Dominant mutations in the gamma2 regulatory subunit of AMP-activated protein kinase (AMPK), encoded by the gene PRKAG2, cause glycogen storage cardiomyopathy. " 01/01/2004 - "In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma2 regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. "
9.	Lysosomal-Associated Membrane Protein 2IBA 01/01/2013 - "Muscle biopsy revealed Danon disease, a genetic disorder affecting the lysosomal-associated membrane protein 2 gene (LAMP2). " 07/01/2007 - "An inherent dysfunction of the late endosomal/lysosomal LAMP2 protein (Danon disease), was excluded on the basis of LAMP2 gene sequence analysis and LAMP2 protein levels. " 01/01/2001 - "Mutations in the coding sequence of the lysosomal-associated membrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease. " 03/01/2008 - "Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. "
10.	GlycogenIBA 01/15/2008 - "Taken together, these data provide insight into mechanisms of cardiac PRKAG2 disease and suggest that glycogen-storage cardiomyopathy can be modulated by lowering glycogen content in the heart." 06/10/2003 - "Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases." 07/01/2014 - "Danon disease is an Xlinked dominant lysosomal glycogen storage disorder characterized by cardiomyopathy, skeletal myopathy, and mental retardation. " 03/01/2007 - "In some of these cases, cardiomyopathy can be attributed to a genetics storage disease with enlarged glycogen vacuolss (PRKAG2 deficiency, Danon disease, Pompe disease) and/or lysosomol vacuoles (Donon disease, Pompe disease, Fabry disease). "

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 03/01/2006 - "This study demonstrates that Danon disease is a frequently fatal condition that is potentially treatable with heart transplantation." 06/01/2011 - "Combining our data with that of 63 other Danon disease case reports in the literature, the average ages of first symptom, cardiac transplantation, and death were 12.1, 17.9, and 19.0 years in men and 27.9, 33.7, and 34.6 years in women, respectively. " 12/01/2008 - "Danon disease is an under-recognized and frequently fatal condition, treatable by heart transplantation. " 03/01/2008 - "Early diagnosis of Danon disease is important for timely cardiac transplantation, the only effective therapeutic option." 03/01/2006 - "Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease."
2.	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 05/01/2010 - "We report the case of an 18-year-old man with Danon disease, a genetic disorder inclunding a severe hypertrophic cardiomyopathy with very broad QRS, who had an implantable cardioverter defibrillator for primary prevention. " 09/01/2013 - "Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD). "