- Metabolite
- HMDB0000067 (Cholesterol)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2198.351-2405.254 uM
- Age
- Adolescent (13-18 years old)
- Sex
- Female
- Condition
- SC4MOL deficiency
References
- He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J: Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650. [PubMed:21285510 ]