GAA deficiency: a new entity in clinical medicine

GAA deficiency: a new entity in clinical medicine

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.

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.

Categories: Reviews

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