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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • AGA deficiency
  • AGU
  • Aspartylglucosamidase (AGA) deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase deficiency
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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

  1. Aspartylglucosaminuria. Genetics Home Reference. December 2008; Accessed 8/17/2011.
  2. Aspartylglycosaminuria . National Organization for Rare Disorders (NORD). 2004; Accessed 8/17/2011.