Last Updated: 8 August 2024
Last Updated: 8 August 2024
AGA Gene
The AGA gene produces aspartylglucosaminidase, which is important for breaking down glycoproteins in lysosomes. Mutations in the AGA gene result in aspartylglucosaminuria, a rare lysosomal storage disorder. Symptoms include developmental delay, skeletal abnormalities, and intellectual disability. AGA gene testing aids in diagnosis and understanding the hereditary nature of the condition.
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AGA Gene
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