AGA : aspartylglucosaminidase


Description

The AGA gene is responsible for producing an enzyme called aspartylglucosaminidase (AGA). This enzyme plays a crucial role within lysosomes, the cell's recycling centers, where it assists in the breakdown of complex sugar molecules (oligosaccharides) attached to proteins. Specifically, AGA cleaves glycoproteins between an amino acid called asparagine and a sugar molecule called N-acetylglucosamine. This final cut completes the disassembly process of glycoproteins within lysosomes.

Associated Diseases

Mutations in the AGA gene can disrupt the function of the AGA enzyme, leading to several medical conditions, including:

  • Aspartylglucosaminuria: A rare metabolic disorder characterized by the inability to break down certain sugars, resulting in symptoms such as developmental delays, seizures, and liver problems.
  • Batten disease: A group of progressive neurological disorders that affect the central nervous system, causing seizures, vision impairment, and cognitive decline.

Did you Know ?

Aspartylglucosaminuria affects approximately 1 in 50,000 to 100,000 newborns worldwide.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.