ARSD
ARS-D: A Genetic Disorder Affecting Lysosomes
Description
ARS-D (Aspartylglucosaminuria) is a rare genetic disorder characterized by the deficiency of the enzyme aspartylglucosaminidase (AGA). This enzyme plays a crucial role in the lysosomes, the cellular organelles responsible for breaking down and recycling waste products. In ARS-D, the absence or malfunction of AGA leads to the accumulation of aspartylglucosamine, a breakdown product of glycoconjugates, within lysosomes.
This accumulation of undigested substances damages the lysosomes and disrupts cellular function. It primarily affects the liver, spleen, and central nervous system, leading to a wide range of clinical manifestations.
Associated Diseases
ARS-D is closely linked to two other storage disorders:
- ML-II (Mucolipidosis II): A more severe form of ARS-D, characterized by severe mental disability, vision and hearing loss, and skeletal abnormalities.
- ML-III (Mucolipidosis III): A milder variant, typically presenting with coarse facial features, skeletal problems, and delayed development.
Did you Know ?
The exact prevalence of ARS-D is unknown, but it's estimated to affect around 1 in 100,000 individuals worldwide.
