What is Schindler disease

Schindler disease, also known as Schindler's disease or Kanzaki disease, is a rare genetic disorder that affects the metabolism of certain lipids in the body. It is classified as a lysosomal storage disorder, which means that it involves the accumulation of substances within the lysosomes, the cell's recycling centers.

This condition is caused by mutations in the NAGA gene, which leads to a deficiency of the enzyme alpha-N-acetylgalactosaminidase. As a result, certain lipids, particularly glycolipids, cannot be properly broken down and eliminated from the body. The accumulation of these lipids can cause damage to various organs and tissues.

Schindler disease is characterized by a wide range of symptoms that can vary in severity. These may include developmental delays, intellectual disability, seizures, muscle weakness, hearing loss, and vision problems. The age of onset and progression of symptoms can also vary, with some individuals experiencing symptoms in infancy while others may not show signs until adulthood.

While there is currently no cure for Schindler disease, treatment focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve a multidisciplinary approach, including medications, physical therapy, and supportive care.

It is important for individuals with Schindler disease to receive ongoing medical care and support from healthcare professionals familiar with this rare condition.