- Metabolite
- HMDB0002356 (Hexacosanoic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1.0-1.3 uM
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
References
- Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C: MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. [PubMed:23423674 ]