- Metabolite
- HMDB0000051 (Ammonia)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 231(96-780) uM
- Age
- Adult (>18 years old)
- Sex
- Both
- Condition
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
References
- Grunert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrazova L, Balci MC, Bischof F, Coker M, Das AM, Demirkol M, de Vries M, Gokcay G, Haberle J, Ucar SK, Lotz-Havla AS, Lucke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. [PubMed:28583327 ]