Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or ...1

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Symptoms List: Aspartylglucosaminuria

Symptoms and clinical features may include:2 Clinical Features of Aspartylglucosaminuria:

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Causes List: Aspartylglucosaminuria

Some of the causes of the condition may include:3 Causes of Aspartylglucosaminuria:

  • Aspartylglucosaminuria
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Causes List for Aspartylglucosaminuria

Some possible causes of Aspartylglucosaminuria or similar disorders may include:4

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Types of Aspartylglucosaminuria

Some types of this condition may include:5 Types of aspartylglucosaminuria:

  • Aspartylglucosamidase (AGA) deficiency
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Genetics of Aspartylglucosaminuria

Genetic Changes: Mutations in the AGA gene cause aspartylglucosaminuria . The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes , which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme ...6

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)7 ...

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  1. Source: GHR (NLM/NIH): condition/ aspartylglucosaminuria
  2. Source: Human Phenotype Ontology
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NCI Thesaurus
  6. Source: GHR (NLM/NIH): condition/ aspartylglucosaminuria
  7. ibid.

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