- Metabolite
- HMDB0000508 (Ribitol)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 20.0 (6.0–35.0) uM
- Age
- Adult (>18 years old)
- Sex
- Both
- Condition
- Ribose-5-phosphate isomerase deficiency
References
- Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed:14988808 ]