Fatty acid alcohol oxidoreductase deficiency
Inheritance from both parents will result in the disease
Age range at onset:
Specialists you may see:
Those with Sjogren-Larsson syndrome tend to be born prematurely, with symptoms presenting in early childhood which do not typically worsen with age. They may experience erythema at birth, this will later develop into ichthyosis; skin will become rough and brownish or yellowish in tone, commonly with mild to severe itchiness. This affects the skin all over the body, although typically not the face.
Neurological symptoms are also common, including intellectual disability from early childhood, as well as dysarthria and delayed speech. Seizures occur in almost half of those with this condition. Spasticity in the legs (and sometimes also in the arms) delays motor skills such as the ability to walk. The eyes of those with Sjogren Larsson syndrome are also affected; some may have nearsightedness and others may experience photophobia. Glistening white dots can be observed by eye examination, but it is unclear if these affect vision.
Sjogren Larsson syndrome is caused by mutations in the ALDH3A2 gene, which creates an enzyme called FALDH, involved in a process called fatty acid oxidation.
When this fatty acid oxidation is disrupted by mutations, fats cannot be broken down and build up in cells. These interfere with water barriers, causing water loss which makes the skin dry and scaly. In the brain, these fats seem to disrupt the formation of myelin (white matter) and the ability of nerves to send signals around the body. The cause of eye problems is not clear, but is expected to also be related to this build up of fats.