- Metabolite
- HMDB0000752 (Methylglutaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1400 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- 3-Methylglutaconic Aciduria (Type V)
References
- Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13. [PubMed:22797137 ]