En autosomalt recessiv neurokutan störning som karakteriseras av svår psykisk funktionsnedsättning, spastisk paraplegi och medfödd fiskfjällshud. Den orsakas av mutering av aldehyddehydrogenas vilket leder till en defekt i metabolismen hos fettalkoholer.
An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
Inga svenska synonymer finns.
Sjogren Larsson Syndrome — Congenital Icthyosis Mental Retardation Spasticity Syndrome — FALDH Deficiency — Fatty Alcohol:NAD+ Oxidoreductase Deficiency — Fatty Aldehyde Dehydrogenase Deficiency — Fatty Aldehyde Dehydrogenase Deficiency Disease — Ichthyosis Oligophrenia Syndrome — Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia — Sjögren-Larsson Syndrome