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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
AGA deficiency

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Description

Glycosaminuria, also known as partylglucosaminuria, is a rare inherited metabolic disorder caused by a deficiency of the enzyme lysosomal alpha-glucosidase. This enzyme is responsible for breaking down certain complex sugars, such as glycosaminoglycans, which are found in the body's connective tissues. Without this enzyme, these sugars accumulate in the body, leading to a variety of symptoms. Symptoms of glycosaminuria can include developmental delays, seizures, and vision and hearing problems. Treatment typically involves dietary changes and enzyme replacement therapy.

Synonyms
  • AGU
  • aspartylglucosaminidase deficiency
  • aspartylglucosaminuria
  • aspartylglycosaminuria
  • glycoasparaginase deficiency
  • glycosylasparaginase deficiency

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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