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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Rare Trait Hope Fund

Our mission is to facilitate development a cure and raise funds for a treatment of Aspartylglucosaminuria (AGU). The organization also works to increase awareness and screening for this misdiagnosed disease, and to be a resource for families, doctors, and scientists world-wide.

Last Updated: 10 Jan 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Rare Trait Hope Fund

Our mission is to facilitate development a cure and raise funds for a treatment of Aspartylglucosaminuria (AGU). The organization also works to increase awareness and screening for this misdiagnosed disease, and to be a resource for families, doctors, and scientists world-wide.

http://www.raretrait.com

Last Updated: 10 Jan 2015

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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 15 free, full-text research articles on human participants. First 3 results:

Brain MRI findings in aspartylglucosaminuria.
 

Author(s): Anna M Tokola, Laura E Ã…berg, Taina H Autti

Journal: J Neuroradiol. 2015 Dec;42(6):345-57.

 

The aim of this study was to identify characteristic 3.0 T brain MRI findings in patients with aspartylglucosaminuria (AGU), a rare lysosomal storage disorder. Previous AGU patient material imaged at 1.0 and 1.5 T was also re-evaluated.

Last Updated: 15 Dec 2015

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Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.
 

Author(s): Lufei Sui, Damodharan Lakshminarasimhan, Suchita Pande, Hwai-Chen Guo

Journal: Structure. 2014 Dec;22(12):1855-61.

 

Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by a metabolic disorder of lysosomes to digest Asn-linked glycoproteins. The specific enzyme linked to AGU is a lysosomal hydrolase called glycosylasparaginase. Crystallographic studies revealed that a surface loop ...

Last Updated: 4 Dec 2014

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Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report.
 

Author(s): Giovanni Ambrosetto, Margherita Santucci

Journal: Epilepsia. 2009 Jun;50(6):1638-40.

 

From the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short-lasting sleep-related paroxysmal events characterized by sudden awakening with a frightened look, hyperventilation, and complex bilateral motor activity. Nocturnal video-polysomnography ...

Last Updated: 3 Aug 2009

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 31 Jul 2017

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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Disorders; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Alpha-Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann-Pick B; Niemann-Pick C Subtype 2; Sphingomyelin Deficiency; Peroxisomal Disorders; Adrenoleukodystrophy With Cerebral Involvement; Zellweger Syndrome; Neonatal Adrenoleukodystrophy; Infantile Refsum Disease; Acyl-CoA Oxidase Deficiency; D-Bifunctional Enzyme Deficiency; Multifunctional Enzyme Deficiency; Alpha-methylacyl-CoA Racmase Deficiency; Mitochondrial Neurogastrointestingal Encephalopathy; Severe Osteopetrosis; Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation); Inherited Metabolic Disorders

 

Last Updated: 15 Jun 2017

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