Dorfman-Chanarin disease

Dorfman-Chanarin-Syndrom describes an autosomal recessive metabolic disease that causes disorders in the storage of triacylglycerides. These are mainly stored in the leucocytes, fibroblasts, muscles and the liver. 

The symptoms of the disease include hepatomeglaemia, ataxia, ichthyosis, myopathies and nystagmus. In some patients, ichthyosis may be the only symptom. The clinical picture can vary greatly.

The cause is probably a mutation of the ABHD5 gene, which codes for a protein responsible for the activation of the adipocyte triglyceride lipase. The lipase remains inactive due to mutations, and triacylglycerides accumulate intracellularly. Large lipid drops are formed especially in the leukocytes.