Int J Med Sci 2020; 17(16):2544-2550. doi:10.7150/ijms.47757
Guanidinoacetic acid deficiency: a new entity in clinical medicine?
1. FSPE Applied Bioenergetics Lab, University of Novi Sad, Novi Sad, Serbia.
2. Faculty of Health Sciences, University of Pecs, Pecs, Hungary.
Ostojic SM, Ratgeber L, Olah A, Betlehem J, Acs P. Guanidinoacetic acid deficiency: a new entity in clinical medicine?. Int J Med Sci 2020; 17(16):2544-2550. doi:10.7150/ijms.47757. Available from http://www.medsci.org/v17p2544.htm
Guanidinoacetic acid (GAA, also known as glycocyamine or betacyamine) is a naturally-occurring derivative of glycine and a direct metabolic precursor of creatine, a key player in high-phosphate cellular bioenergetics. GAA is found in human serum and urine, with circulating GAA likely reflects an equilibrium between its endogenous production and utilization/excretion. GAA deficiency (as indicated by low serum GAA) has been reported in various conditions yet this intriguing clinical entity appears to be poorly characterized as yet, either as a primary deficit or a sequel of secondary disease. This minireview article summarizes the inherited and acquired disorders with apparent GAA deficiency and discusses a possible relevance of GAA shortfall in clinical medicine.
Keywords: guanidinoacetic acid, AGAT deficiency, renal failure, epilepsy, traumatic injury