Aspartylglycosaminuria

Title

Other Names:

Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency; AGU; Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency; AGU; AGA deficiency; Glycosylasparaginase deficiency See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases; Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary

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.^[1]^[2]^[3]

Last updated: 8/17/2011

Symptoms Symptoms

Infants with aspartylglycosaminuria appear healthy at birth, and development is typcailly normal throughout childhood. The first sign of this condition, which becomes evident around the age of 2 or 3, is usually delayed speech. Mild intellectual disability then becomes apparent, and learning occurs at a slowed pace. Intellectual disability progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with aspartylglucosaminuria may develop seizures or problems with movement.^[3]

People with this condition may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. The nose is short and broad and the face is usually square-shaped. Children with this condition may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short. Affected children also tend to have frequent upper respiratory infections. Individuals with aspartylglucosaminuria usually survive into mid-adulthood.^[3] The skeleton may also become deformed. The spine may be twisted (scoliosis) and the neck may be unusually short. The eyes may also develop cataracts. Behavior problems are common. Lung, heart and blood problems tend to occur in later years.^[2]

Last updated: 8/17/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of amino acid metabolism		0004337
Aspartylglucosaminuria	High urine aspartylglucosamine levels	0012068
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Dyskinesia	Disorder of involuntary muscle movements	0100660
Gingival overgrowth	Gum enlargement	0000212
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Large face	Big face	0100729
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Scoliosis		0002650
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Umbilical hernia		0001537
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Abnormal cortical bone morphology		0003103
Abnormality of the ulna		0002997
Anterior beaking of lumbar vertebrae		0008430
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Coarse facial features	Coarse facial appearance	0000280
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Macroorchidism	Large testis	0000053
Pectus carinatum	Pigeon chest	0000768
Thickened calvaria	Increased thickness of skull cap Thickened skull cap [ more ]	0002684
5%-29% of people have these symptoms
Arthritis	Joint inflammation	0001369
Chronic otitis media	Chronic infections of the middle ear	0000389
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Hepatomegaly	Enlarged liver	0002240
Inguinal hernia		0000023
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Malabsorption	Intestinal malabsorption	0002024
Pes planus	Flat feet Flat foot [ more ]	0001763
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Seizure		0001250
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Splenomegaly	Increased spleen size	0001744
Vascular skin abnormality		0011276
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Acne		0001061
Angiokeratoma corporis diffusum		0001071
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autosomal recessive inheritance		0000007
Beaking of vertebral bodies		0004568
Brachycephaly	Short and broad skull	0000248
Broad face	Increased breadth of face Increased width of face Wide face [ more ]	0000283
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cerebral atrophy	Degeneration of cerebrum	0002059
Decreased prothrombin time		0032198
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Diarrhea	Watery stool	0002014
Dysostosis multiplex		0000943
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hernia		0100790
Hoarse voice	Hoarseness Husky voice [ more ]	0001609
Hypoplastic frontal sinuses		0002738
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Kyphosis	Hunched back Round back [ more ]	0002808
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Mitral regurgitation		0001653
Muscular hypotonia	Low or weak muscle tone	0001252
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Pathologic fracture	Spontaneous fracture	0002756
Platyspondyly	Flattened vertebrae	0000926
Short stature	Decreased body height Small stature [ more ]	0004322
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Spondylolisthesis	Displacement of one backbone compared to another Slipped backbone [ more ]	0003302
Spondylolysis		0003304
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Vacuolated lymphocytes		0001922
Wide mouth	Broad mouth Large mouth [ more ]	0000154

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

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.^[3]

Last updated: 8/17/2011

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Aspartylglycosaminuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
#218-2055 Commercial Drive
Vancouver, BC V5N OC7
Canada
Toll-free: 800-667-1846
Telephone: 604-924-5130
Fax: 604-924-5131
E-mail: info@mpssociety.ca
Website: http://www.mpssociety.ca
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
National MPS Society
P.O. Box 14686
Durham, NC 27709-4686
Toll-free: 1-877-MPS-1001 (1-877-677-1001)
Telephone: +1-919-806-0101
Fax: +1-919-806-2055
E-mail: info@mpssociety.org
Website: https://mpssociety.org/
Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
HP7 9LP
United Kingdom
Telephone: (+44) 0345 389 9901
E-mail: mps@mpssociety.co.uk
Website: http://www.mpssociety.co.uk
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: info@ismrd.org
Website: https://www.ismrd.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
Genetics Home Reference (GHR) contains information on Aspartylglycosaminuria. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Aspartylglycosaminuria. Click on the link to view a sample search on this topic.

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Other Conferences

2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
Location: Crowne Plaza Hotel, Charleston, SC
Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

GARD Answers GARD Answers

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Both my brother and sister have aspartylglycosaminuria. I would like to get in contact with other families that have this illness. Also, can you provide some information on it? See answer

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