Publications by authors named "Emily A Khoury"
Mol Genet Metab
June 2021
Article Synopsis
- Sjögren-Larsson syndrome (SLS) is an inherited metabolic disorder that leads to symptoms like skin dryness (ichthyosis), muscle stiffness (spasticity), and cognitive challenges (intellectual disability) due to faulty metabolism of fatty aldehydes and alcohols.
- A study examined the levels of specific fatty alcohols (1-O-alkylglycerols or AGs) in different tissues of SLS patients, revealing a significant increase in certain saturated AGs in the skin, indicating altered lipid metabolism.
- The findings suggest that the accumulation of AGs in the skin could serve as a new biomarker for SLS, providing a simple method to evaluate abnormal lipid synthesis and potentially identify other related metabolic disorders.
