- Metabolite
- HMDB0000568 (D-Arabitol)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1021 - 1612 umol/mmol creatinine
- Age
- Adult (>18 years old)
- Sex
- Both
- Condition
- Ribose-5-Phosphate Isomerase Deficiency
Comments
Patient age: 0 - 18 years
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 ]