- Metabolite
- HMDB0000128 (Guanidoacetic acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.9-2.6 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Female
- Condition
- Cerebral creatine deficiency syndrome 3
References
- Nouioua S, Cheillan D, Zaouidi S, Salomons GS, Amedjout N, Kessaci F, Boulahdour N, Hamadouche T, Tazir M: Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. Neuromuscul Disord. 2013 Aug;23(8):670-4. doi: 10.1016/j.nmd.2013.04.011. Epub 2013 Jun 14. [PubMed:23770102 ]