Question: What are the genetic changes related to Chanarin-Dorfman syndrome ?
Answer: Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome.
Source: GHR

Question: What are the treatments for Chanarin-Dorfman syndrome ?
Answer: These resources address the diagnosis or management of Chanarin-Dorfman syndrome: - Genetic Testing Registry: Triglyceride storage disease with ichthyosis - MedlinePlus Encyclopedia: Ichthyosis vulgaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR