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)


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)