SGSH : N-sulfoglucosamine sulfohydrolase
Description
The SGSH gene provides instructions for making the enzyme sulfatase, a crucial protein involved in breaking down sulfatide, a fatty substance found in the brain and other tissues. Sulfatase works by removing sulfate groups from sulfatide, which is essential for normal brain development and function. Mutations in the SGSH gene can disrupt this process, leading to a buildup of sulfatide in the brain and other tissues, resulting in a range of neurological disorders.
Associated Diseases
- Metachromatic Leukodystrophy (MLD): This is the most common disorder caused by SGSH gene mutations. MLD is a progressive neurodegenerative disorder that affects the brain, spinal cord, and peripheral nerves. Symptoms can vary depending on the age of onset, but often include problems with walking, talking, and coordination.
- Late Infantile MLD (LIMD): This type of MLD typically appears between 6 and 30 months of age. Symptoms include developmental delays, loss of motor skills, seizures, and vision problems.
- Juvenile MLD (JMD): JMD usually appears between 2 and 10 years of age. Symptoms include progressive neurological decline, including problems with walking, talking, and thinking.
- Adult MLD: This type of MLD appears after the age of 16 and progresses slowly. Symptoms can include dementia, mood swings, and behavioral problems.
- Sulfatide Lipidosis: This rare disorder is characterized by the accumulation of sulfatide in the liver, spleen, and bone marrow.
- Pseudo-MLD: This disorder involves similar symptoms to MLD, but it is not caused by mutations in the SGSH gene.
- X-linked Sulfatide Lipidosis: This rare disorder is caused by mutations in the ARSG gene, which is responsible for producing another enzyme involved in sulfatide metabolism.
Did you know?
The SGSH gene is located on the X chromosome, which means that males are more likely to be affected by disorders caused by mutations in this gene.
