Gene ALDH3A2
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Also known as
FALDH, SLS, ALDH10Overview
ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2) encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that oxidizes medium and long-chain aliphatic aldehydes to fatty acids. This enzyme is essential for the metabolism of fatty alcohols and is part of the lipid metabolism pathway.Mutations in ALDH3A2 cause Sjogren-Larsson syndrome (SLS), a rare autosomal recessive neurocutaneous disorder characterized by ichthyosis (scaly skin), spastic diplegia or tetraplegia, and intellectual disability. The condition results from accumulation of fatty aldehydes and fatty alcohols, which are toxic to the skin and central nervous system.
Sjogren-Larsson syndrome typically presents in infancy with pruritic ichthyosis, followed by neurological symptoms in the first years of life. Understanding your ALDH3A2 genetic status can be important for carrier screening and early diagnosis of this condition in families with a history of SLS.