Aspartylglucosaminuria

Common Name(s)

Aspartylglucosaminuria, Aspartylglycosaminuria

Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems, and intellectual disability.  Symptoms result from a deficiency in an enzyme called aspartylglycosaminidase, which leads to an accumulation of a protein called glycoasparagine in the body tissues and  increased excretion of this protein in the urine. Aspartylglycosaminuria is inherited in an autosomal recessive fashion and caused by mutations in the AGA gene. It is commonly seen in individuals of Finnish decent.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aspartylglucosaminuria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aspartylglucosaminuria" returned 13 free, full-text research articles on human participants. First 3 results:

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis.
 

Author(s): M Arvio, K Laiho, M Kauppi, M Peippo, P Leino, H Kautiainen, O Kaipiainen-Seppänen, I Mononen

Journal: Ann. Rheum. Dis.. 2002 Feb;61(2):180-1.

 

To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease.

Last Updated: 17 Jan 2002

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Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
 

Author(s): J Saarela, M Laine, C Oinonen, C von Schantz, A Jalanko, J Rouvinen, L Peltonen

Journal: Hum. Mol. Genet.. 2001 Apr;10(9):983-95.

 

A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is enriched in the Finnish population, where 98% of AGU alleles contain one founder mutation, AGU(Fin). Elsewhere in the world, ...

Last Updated: 19 Apr 2001

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Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
 

Author(s): P Arvio, M Arvio, M Kero, S Pirinen, P L Lukinmaa

Journal: J. Med. Genet.. 1999 May;36(5):398-404.

 

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase (AGA). The main symptom is progressive mental retardation. A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible ...

Last Updated: 24 Aug 1999

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aspartylglucosaminuria" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis; Hurler Syndrome; Hunter Syndrome; Maroteaux-Lamy Syndrome; Sly Syndrome; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy (ALD); Krabbe Disease; Metachromatic Leukodystrophy (MLD); Sphingolipidoses; Peroxisomal Disorders

 

Last Updated: 15 May 2014

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