Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

• Published in: Metabolites Vol. 13; no. 6; p. 682
• Main Authors: Dai, Hongying Daisy, Qiu, Fang, Jackson, Kimberly, Fruttiger, Marcus, Rizzo, William B.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.05.2023; MDPI
• Subjects: Aldehyde dehydrogenase; Amino acids; Analysis; Bile acids; Care and treatment; Diagnosis; fatty alcohol; fatty aldehyde; Genetic aspects; Glycogen; Ichthyosis; Intellectual disabilities; intellectual disability; Lipid metabolism; Lipids; Males; Mass spectrometry; Metabolism; Metabolites; Metabolomics; Mutation; Plasma; Purines; Rare diseases; Retinopathy; Scientific imaging; Sjogren's syndrome; Sjogren-Larsson syndrome; spasticity; Sphingolipids; Statistical analysis; Sterols; Tryptophan; United States; United States > US; fatty aldehyde; pathogenesis; fatty alcohol; lipid metabolism; spasticity; ichthyosis; intellectual disability

Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and re...