How is aspartylglycosaminuria inherited?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Last updated on 05-01-20

How can I get in contact with other families with aspartylglycosaminuria?

You you can view our Organizations page for this condition to find advocacy organizations that provide information and supportive resources. They may be able to assist you in connecting with other families with aspartylglycosaminuria.

Last updated on 05-01-20

What is 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.

Last updated on 05-01-20

Name: Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society) #218-2055 Commercial Drive Vancouver, BC V5N OC7
Phone: 604-924-5130 Toll Free: 800-667-1846 Fax : 604-924-5131 Email: Url:
Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: National MPS Society P.O. Box 14686
Durham, NC, 27709-4686, United States
Phone: +1-919-806-0101 Toll Free: 1-877-MPS-1001 (1-877-677-1001) Fax : +1-919-806-2055 Email: Url:
Name: Society for Mucopolysaccharide (MPS) Diseases MPS House Repton Place White Lion Road Amersham Buckinghamshire
United Kingdom
Phone: (+44) 0345 389 9901 Email: Url:
Name: The International Advocates for Glycoprotein Storage Diseases (ISMRD) 20880 Canyon View Drive
Saratoga, CA, 95070, United States
Email: Url:

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