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Aspartylglycosaminuria

Abstract

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Synonyms of Aspartylglycosaminuria

  • AGA
  • AGU
  • Aspartylglucosaminidase Deficiency
  • Glycosylasparaginase Deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation. Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body.

Organizations related to Aspartylglycosaminuria

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