- Metabolite
- HMDB0000130 (Homogentisic acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- >1189.438 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- Homogentisic Acid Oxidase deficiency (Alkaptonuria)
References
- Thalagahage KN, Jayaweera JA, Kumbukgolla WW, Senavirathne I: Detection of alkaptonuria in a 1-week-old infant. BMJ Case Rep. 2015 May 8;2015. pii: bcr2014208505. doi: 10.1136/bcr-2014-208505. [PubMed:25956497 ]