Genetic Test
The ARSG (Arylsulfatase G) gene encodes an enzyme that is localized within lysosomes—intracellular organelles responsible for breaking down and recycling various biological molecules.
The enzyme produced by this gene plays a role in the hydrolysis of complex substances such as steroids, carbohydrates, and glycosphingolipids (sugar-containing fats).
Proper function of this enzyme is essential for cellular metabolism and waste processing.
Mutations in the ARSG gene are associated with lysosomal storage diseases, a group of inherited metabolic disorders characterized by the accumulation of undegraded materials within lysosomes.
This genetic test targets a specific ARSG mutation linked to lysosomal storage disease.
Disease Description
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by the abnormal accumulation of undigested substances within lysosomes.
Lysosomes are intracellular organelles that contain digestive enzymes responsible for breaking down damaged cellular components, large biomolecules such as proteins, carbohydrates, and glycosphingolipids, as well as foreign materials like viruses and bacteria.
There are approximately 50 known types of LSDs, each with distinct clinical features, severity levels, and genetic causes.
The lysosomal storage disease associated with mutations in the ARSG (Arylsulfatase G) gene primarily affects the nervous system.
Deficiency of this enzyme leads to the buildup of specific substrates in neuronal cells, resulting in neurodegeneration, neuronal death, and progressive loss of motor function.
Ataxia (loss of coordination and balance) is a hallmark clinical sign of this condition.
