Sjogren-Larsson Syndrome (definition)

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Sjogren-Larsson Syndrome

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Definition: 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.

do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sj+¦gren-Larsson

Other names Ichthyosis, Spastic Neurologic Disorder, and Oligo; Fatty Aldehyde Dehydrogenase Deficiency Disease; Fatty Aldehyde Dehydrogenase Deficiency; Fatty Alcohol:NAD+ Oxidoreductase Deficiency; Sjogren Larsson Syndrome; FALDH Deficiency

Substance	CAS Registry & name	Categories	Source
Sjogren-Larsson-like syndrome	0	*Sjogren-Larsson Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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