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GM1 Gangliosidosis (Gangliosidosis GM1)

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An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

Also Known As:

Gangliosidosis GM1; Gangliosidosis, GM1; Adult GM1 Gangliosidosis; Beta Galactosidase 1 Deficiency; Beta-Galactosidase-1 Deficiency Disease; Gangliosidosis G(M1); Gangliosidosis GM1 Type 3; Gangliosidosis GM1, Adult; Gangliosidosis GM1, Infantile; Gangliosidosis GM1, Juvenile; Gangliosidosis GM1, Type 1; Gangliosidosis GM1, Type 2; Gangliosidosis GM1, Type 3; Gangliosidosis Generalized GM1, Type 1; Gangliosidosis, Generalized GM1 Type 2; Gangliosidosis, Generalized GM1, Juvenile Type; Gangliosidosis, Generalized GM1, Type 1; Gangliosidosis, Generalized GM1, Type 2; Gangliosidosis, Generalized GM1, Type 3; Generalized Gangliosidosis; Type 3 (Adult) GM1 Gangliosidosis; beta Galactosidase Deficiency; beta-Galactosidase Deficiency; Beta Galactosidase 1 Deficiency Disease; Beta-Galactosidase-1 Deficiency Diseases; Deficiencies, beta Galactosidase; Deficiencies, beta-Galactosidase; Deficiency Disease, Beta-Galactosidase-1; Deficiency Diseases, Beta-Galactosidase-1; Deficiency, beta Galactosidase; Deficiency, beta-Galactosidase; Disease, Beta-Galactosidase-1 Deficiency; GM1 Gangliosidosis, Adult; Galactosidase Deficiencies, beta; Galactosidase Deficiency, beta; Gangliosidosis, Adult GM1; Infantile Gangliosidosis GM1; Juvenile Gangliosidosis GM1; beta-Galactosidase Deficiencies; G(M1) Gangliosidosis

Networked: 243 relevant articles (3 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	GM1 Gangliosidosis (Gangliosidosis GM1)
2.	Mucolipidoses (Sialidosis)
3.	Mucopolysaccharidosis IV (Morquio Syndrome)
4.	Globoid Cell Leukodystrophy (Krabbe Disease)
5.	Fabry Disease (Fabry's Disease)

Experts

1.	Suzuki, Yoshiyuki: 8 articles (05/2014 - 12/2003)
2.	Yamato, Osamu: 8 articles (01/2013 - 02/2003)
3.	Higaki, Katsumi: 5 articles (05/2014 - 12/2003)
4.	Nanba, Eiji: 5 articles (05/2014 - 12/2003)
5.	d'Azzo, Alessandra: 5 articles (07/2011 - 08/2004)
6.	Martin, Douglas R: 4 articles (04/2014 - 06/2008)
7.	Yabuki, Akira: 4 articles (01/2013 - 11/2011)
8.	Mahuran, Don J: 4 articles (09/2012 - 06/2008)
9.	Paschke, Eduard: 4 articles (05/2012 - 08/2009)
10.	Stütz, Arnold E: 4 articles (05/2012 - 09/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to GM1 Gangliosidosis:

1.	OligosaccharidesIBA 02/07/1983 - "An improved, rapid, and sensitive method for the biochemical diagnosis of GM1 gangliosidosis based on the detection and quantification of urinary galactosyl-oligosaccharides with high performance liquid chromatography was developed. " 06/01/1991 - "Two new oligosaccharides were isolated from the urine of a patient with GM1 gangliosidosis. " 05/01/1991 - "Oligosaccharide 1 is one of the most common urinary oligosaccharides found in type 1 and type 2 GM1 gangliosidosis. " 05/01/1991 - "Two major oligosaccharides were isolated from the urine of a patient with type 3 GM1 gangliosidosis. " 05/01/1991 - "Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis."
2.	Biological Markers (Surrogate Marker)IBA 02/16/2007 - "However, this treatment did not change either the clinical course or the CSF biomarkers of the affected dog, suggesting that glucocorticoid therapy would not be effective for treating GM1 gangliosidosis." 02/16/2007 - "In conclusion, GM1 ganglioside, AST, LDH, NSE and MBP could be utilized as CSF biomarkers showing CNS degeneration in dogs with GM1 gangliosidosis to evaluate the efficacy of novel therapies proposed for this disease. " 02/16/2007 - "The present study investigated cerebrospinal fluid (CSF) biomarkers for estimating degeneration of the central nervous system (CNS) in experimental dogs with GM1 gangliosidosis and preliminarily evaluated the efficacy of long-term glucocorticoid therapy for GM1 gangliosidosis using the biomarkers identified here. " 02/16/2007 - "Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: possible use for assessment of a therapeutic regimen."
3.	Protons (Proton)IBA 01/01/2008 - "Although these findings will have to be further confirmed in more patients with GM1 gangliosidosis, they suggest that proton magnetic resonance spectroscopy may provide useful end points to assess the efficacy of novel treatments that could soon become clinically available. " 01/01/2008 - "Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis." 01/01/2008 - "The proton magnetic resonance spectroscopy, previously reported in a single patient with GM1 gangliosidosis, detected a mild reduction of N-acetylaspartate, consistent with relative paucity of axons and neurons and increased levels of myoinositol suggestive of gliotic white matter changes along with the accumulation of an additional compound that could represent either guanidinoacetate or Gal beta 1-6Gal beta 1-4)GlcNAc, an oligosaccharide previously isolated from the urine of GM1 gangliosidosis patients. "
4.	beta-Galactosidase (Lactaid)IBA 04/01/1998 - "An 18-month-old girl was diagnosed as having GM1 gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepatosplenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme beta-galactosidase. " 03/01/1981 - "Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. " 11/01/1974 - "Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis." 07/01/2011 - "Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. " 01/01/2011 - "Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. "
5.	N-octyl-beta-valienamineIBA 07/01/2007 - "Among them, N-octyl-4-epi-beta-valienamine as a lysosomal beta-galactosidase inhibitor is currently undergoing a new molecular therapeutic trial (chemical chaperone therapy) for control of the human beta-galactosidase deficiency disorder, G(M1)-gangliosidosis." 12/23/2003 - "We synthesized a galactose derivative, N-octyl-4-epi-beta-valienamine (NOEV), for a molecular therapy (chemical chaperone therapy) of a human neurogenetic disease, beta-galactosidosis (GM1-gangliosidosis and Morquio B disease). " 01/01/2009 - "We found two valienamine derivatives, N-octyl-4-epi-beta-valienamine (NOEV) and N-octyl-beta-valienamine (NOV), as promising therapeutic agents for human beta-galactosidase deficiency disorders (mainly G(M1)-gangliosidosis) and beta-glucosidase deficiency disorders (Gaucher disease), respectively. " 04/01/2006 - "We started this trial first in Fabry disease (generalized vasculopathy) using galactose and 1-deoxygalactonojirimycin, and then in beta-galactosidase deficiency disorders (beta-galactosidosis) with generalized neurosomatic and/or systemic skeletal manifestations (GM(1)-gangliosidosis and Morquio B disease), using a newly developed chemical compound N-octyl-4-epi-beta-valienamine (NOEV). "
6.	acid beta-galactosidaseIBA 02/01/2003 - "The present study was conducted to determine the clinical and clinico-pathologic characteristics of Shiba dogs with GM1 gangliosidosis, which is due to an autosomal recessively inherited deficiency of lysosomal acid beta-galactosidase activity. " 11/01/2004 - "Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. " 02/01/2003 - "Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis." 07/01/2000 - "In contrast, twitcher mice with a single functional acid beta-galactosidase gene have the most severe disease with the shortest lifespan, despite the fact that G(M1) gangliosidosis carrier mice with an otherwise normal genetic background are phenotypically normal. " 03/20/2000 - "Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene transfer: higher efficiency of release and cross-correction by the murine enzyme."
7.	Neuraminidase deficiency with beta-galactosidase deficiencyIBA 03/01/1987 - "In galactosialidosis, two types of inclusions, vacuolar and lamellar, were distinguished, resembling those usually seen in generalized gangliosidosis. " 01/03/1986 - "The results are compatible with findings that GM1 and GA1 do not accumulate in the somatic organs of patients with adult GM1 gangliosidosis and galactosialidosis. " 04/01/1985 - "Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. " 11/01/2004 - "Lysosomal storage disorder samples include; aspartylglucosaminuria, galactosialidosis, Gaucher disease, GM1 gangliosidosis, mucopolysaccharidosis types I, II, IIIC, IVA, VI, and VII, mucolipidosis type II, multiple sulfatase deficiency, and sialidosis type II. Each disorder produced a unique signature metabolic profile of protein, oligosaccharide, and glycolipid markers. " 12/01/2000 - "Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosidosis, galactosialidosis, carbohydrate-deficient glycoprotein syndromes and Sandhoff's disease). "
8.	Galactose (Galactopyranose)FDA LinkGeneric 02/28/1969 - "Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien." 12/01/1987 - "For the leukocytes, our observations on enzyme inhibition by galactonic acid-y-lactone and derivatives of beta-D-galactose, together with an enzyme deficiency in GM1 gangliosidosis confirm the previous observation that beta-fuc and beta-gal are enzyme activities of a single protein (5). " 05/31/1968 - "A profound deficiency (10- to 30-fold) of beta-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-beta-D-galactopyranoside and ganglioside GM(1) labeled with C(14) in the terminal galactose. " 12/23/2003 - "We synthesized a galactose derivative, N-octyl-4-epi-beta-valienamine (NOEV), for a molecular therapy (chemical chaperone therapy) of a human neurogenetic disease, beta-galactosidosis (GM1-gangliosidosis and Morquio B disease). " 02/28/1969 - "We have demonstrated a tenfold (or greater) reduction of the cleavage of galactose from a mucopolysaccharide and a glycoprotein in generalized gangliosidosis, a lysosomal beta-galactosidase deficiency disease. "
9.	CholesterolIBA 03/01/1985 - "These results were supported by a second study which revealed that isolated synaptosomal membranes of GM1 gangliosidosis cats had a 24-fold increase in total ganglioside content caused predominantly by excess GM1, a 2.3-fold increased cholesterol content, and a 1.4-fold increased phospholipid content. " 01/01/2009 - "In contrast, CD failed to ameliorate cholesterol or glycosphingolipid storage in GM1 gangliosidosis and MPS IIIA disease. " 01/01/2007 - "Similar to G(M1) gangliosidosis, cholesterol was trapped in BMP vesicles in G(M1)- and in a low pH-dependent manner. " 01/01/2009 - "We reasoned that other lysosomal diseases characterized by cholesterol and GSL accumulation, including NPC disease due to NPC2 deficiency, GM1 gangliosidosis and mucopolysaccharidosis (MPS) type IIIA, might likewise benefit from CD treatment. " 04/01/1994 - "The bone marrow cytological storage phenomena in generalized lysosomal lipid storage disorders (Gaucher disease, Niemann-Pick disease, GM1-gangliosidosis, cholesterol ester storage diseases) are reviewed. "
10.	N-Acetylneuraminic Acid (Sialic Acid)IBA 06/01/1978 - "[Adult mucolipidosis with beta-galactosidase deficiency: a clinical report, with studies of urinary sialic acid-rich substances (author's transl)]." 05/01/1982 - "Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency." 02/05/1981 - "The sialic acid content of sialidosis II, juvenile type, with coexistent sialidase and beta-galactosidase deficiencies, is only slightly elevated above normal levels. " 06/01/1978 - "With this method increased urinary excretion of sialic acid-rich oligosaccharides has been detected in nine patients with mucolipidoses (five cases of mucolipidosis II and four patients of mucolipidosis, with beta-galactosidase deficiency). "

Therapies and Procedures

1.	Enzyme Replacement Therapy 06/01/2008 - "Generation and characterization of recombinant feline beta-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis." 06/01/2008 - "As a step towards preclinical studies for enzyme replacement therapy in an animal model of GM1 gangliosidosis, a feline beta-galactosidase cDNA was cloned into a mammalian expression vector and subsequently expressed in Chinese hamster ovary (CHO-K1) cells. "
2.	Lasers (Laser) 11/01/2011 - "The present study established a rapid and simple method for detection of accumulated GM1 in the CSF in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI TOF MS) and discusses the usefulness of this method for the rapid diagnosis and/or high-risk screening of this disease in domestic animals. " 11/01/2011 - "Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry."
3.	Enzyme Therapy 11/01/1976 - "[Beta-galactosidase deficiency in the small intestine and its enzyme therapy]."
4.	Cell Transplantation 11/01/2009 - "Intracerebral cell transplantation therapy for murine GM1 gangliosidosis."
5.	Tissue Transplantation 01/01/1985 - "This communication reports the clinical and biochemical results in six patients: four with mucopolysaccharidosis, one with GM1 gangliosidosis (Morquio B) and one with I-cell disease, who were treated by amniotic tissue transplantation. "