It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase (ALDH3A2) which is encoded on the short arm of chromosome 17 (17p11.2). At least 11 distinct mutations have been identified. Without a functioning fatty aldehyde dehydrogenase enzyme, the body is unable to break down medium- and long-chain fatty aldehydes which then build up in the membranes of the skin and brain. This condition is inherited in an autosomal recessive pattern.
Sjögren–Larsson syndrome
Marinesco–Sjögren syndrome
Sjögren syndrome
Neuro-Behçet's disease
Anti-IgLON5 disease
Auto-brewery syndrome
CREST syndrome
Sever's disease