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Genetic and Rare Diseases Information Center (GARD)

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Aspartylglycosaminuria


Other Names for this Disease

  • AGA deficiency
  • AGU
  • Aspartylglucosamidase (AGA) deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of aspartylglycosaminuria?

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.[1]

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.[1] 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

The Human Phenotype Ontology provides the following list of signs and symptoms for Aspartylglycosaminuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of metabolism/homeostasis 90%
Abnormality of movement 90%
Abnormality of the outer ear 90%
Cognitive impairment 90%
Gingival overgrowth 90%
Hypertelorism 90%
Large face 90%
Mandibular prognathia 90%
Neurological speech impairment 90%
Scoliosis 90%
Short nose 90%
Thick lower lip vermilion 90%
Umbilical hernia 90%
Abnormal cortical bone morphology 50%
Abnormal form of the vertebral bodies 50%
Abnormality of the tongue 50%
Abnormality of the ulna 50%
Carious teeth 50%
Coarse facial features 50%
Craniofacial hyperostosis 50%
Macroorchidism 50%
Pectus carinatum 50%
Arthritis 7.5%
Hepatomegaly 7.5%
Limitation of joint mobility 7.5%
Malabsorption 7.5%
Otitis media 7.5%
Pes planus 7.5%
Recurrent respiratory infections 7.5%
Seizures 7.5%
Sleep disturbance 7.5%
Splenomegaly 7.5%
Abnormality of metabolism/homeostasis -
Acne -
Angiokeratoma corporis diffusum -
Anteverted nares -
Aspartylglucosaminuria -
Autosomal recessive inheritance -
Beaking of vertebral bodies -
Brachycephaly -
Broad face -
Cataract -
Cerebral atrophy -
Coarse facial features -
Delayed skeletal maturation -
Delayed speech and language development -
Depressed nasal bridge -
Developmental regression -
Diarrhea -
Dysostosis multiplex -
Hepatomegaly -
Hernia -
Hoarse voice -
Hypoplastic frontal sinuses -
Intellectual disability -
Joint laxity -
Kyphosis -
Macroglossia -
Macroorchidism -
Mitral regurgitation -
Muscular hypotonia -
Neutropenia -
Pathologic fracture -
Platyspondyly -
Recurrent respiratory infections -
Scoliosis -
Seizures -
Short stature -
Spasticity -
Spondylolisthesis -
Spondylolysis -
Thick lower lip vermilion -
Thickened calvaria -
Vacuolated lymphocytes -
Wide mouth -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Aspartylglucosaminuria. Genetics Home Reference. December 2008; http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria. Accessed 8/17/2011.
  2. Aspartylglycosaminuria . National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/918/viewAbstract. Accessed 8/17/2011.


Other Names for this Disease
  • AGA deficiency
  • AGU
  • Aspartylglucosamidase (AGA) deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.