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Aspartylglucosaminuria

A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
Also Known As:
Aspartylglycosaminuria; Aspartylglucosaminurias; Aspartylglycosaminurias
Networked: 117 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mannosidase Deficiency Diseases (Mannosidosis)
2. Fucosidosis
3. Gaucher Disease (Gaucher's Disease)
4. Metachromatic Leukodystrophy (Sulfatide Lipidosis)
5. Globoid Cell Leukodystrophy (Krabbe Disease)

Experts

1. Jalanko, Anu: 3 articles (06/2006 - 06/2003)
2. Mononen, Ilkka: 2 articles (10/2010 - 01/2005)
3. Kelo, Eira: 2 articles (10/2010 - 01/2005)
4. Dunder, Ulla: 2 articles (10/2010 - 01/2005)
5. Laine, Minna: 2 articles (06/2006 - 06/2003)
6. Laine, M: 2 articles (12/2004 - 04/2001)
7. Jalanko, A: 2 articles (12/2004 - 04/2001)
8. Mononen, I: 2 articles (06/2001 - 02/2000)
9. Dunder, U: 2 articles (06/2001 - 02/2000)
10. Sui, Lufei: 1 article (12/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aspartylglucosaminuria:
1. Glycoproteins (Glycoprotein)IBA
2. N-acetylglucosaminylasparagineIBA
3. GlycosaminoglycansIBA
4. Hexosaminidases (Hexosaminidase)IBA
5. GlycopeptidesIBA
6. Aspartylglucosylaminase (Aspartylglucosaminidase)IBA
7. glycoasparaginesIBA
8. Neuraminidase deficiency with beta-galactosidase deficiencyIBA
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. "
09/01/2013 - "We identified diagnostic urinary FOS patterns for α-mannosidosis, galactosialidosis, mucolipidosis type II/III, sialidosis, α-fucosidosis, aspartylglucosaminuria (AGU), Pompe disease, Gaucher disease, and GM1 and GM2 gangliosidosis. "
01/01/1990 - "This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler disease). "
01/01/2012 - "This method allows the detection of storage of oligosaccharides, which may indicate the presence of one of the infantile Pompe disease, α-mannosidosis, Gm1-gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, I-cell disease, and aspartylglucosaminuria."
09/01/1990 - "This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including alpha-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. "
9. DolicholIBA
10. CollagenIBA

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Enzyme Replacement Therapy
3. Enzyme Therapy
4. Stem Cell Transplantation
5. Transplants (Transplant)