- Metabolite
- HMDB0002931 (N-Acetylserine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 104 (99-111) umol/mmol creatinine
- Age
- Adult (>18 years old)
- Sex
- Not Specified
- Condition
- Aminoacylase I deficiency
References
- Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H: Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18. [PubMed:16465618 ]