Is Arylsulfatase a protein?
ARSA (Arylsulfatase A) is a Protein Coding gene. Diseases associated with ARSA include Metachromatic Leukodystrophy and Metachromatic Leukodystrophy, Juvenile Form.
What disease is MLD?
Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system.
Is MLD curable?
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.
What is sulfatase enzyme?
Sulfatases are enzymes that catalyze the hydrolysis of sulfate esters of complex macromolecules such as glycosaminoglycans and sulfatides (Diez-Roux and Ballabio, 2005).
What are the symptoms of MLD?
- Loss of the ability to detect sensations, such as touch, pain, heat and sound.
- Loss of intellectual, thinking and memory skills.
- Loss of motor skills, such as walking, moving, speaking and swallowing.
- Stiff, rigid muscles, poor muscle function and paralysis.
- Loss of bladder and bowel function.
- Gallbladder problems.
What is the function of arylsulfatase A in humans?
Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene. A deficiency is associated with metachromatic leukodystrophy, an autosomal recessive disease.
What is the course of pseudoarylsulfatase a deficiency?
The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD.
Which is enzyme breaks down cerebroside 3 sulfate?
Arylsulfatase A. Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
Which is hydrolysis of phenyl sulphate by arylsulfatase?
The hydrolysis of substituted phenyl sulphates by the arylsulphatase of Alcaligenes metalcaligenes”. The Biochemical Journal. 64 (2): 216–21. PMC 1199721. PMID 13363831.