Toxicity of Organic Acids Leading to Renal Dysfunction in Glutaric Acidemia Type I: A Mini Review

Abstract

Glutaric Acidemia type I is an inborn error of metabolism that impairs the metabolism of lysine, hydroxylysine, and tryptophan, leading to neurologic and, as more recently described, acute and chronic kidney damage. This mini review explores the available literature regarding renal impairment in GA-1 and highlights the possible mechanisms involved. Most case reports regarding patients presenting acute kidney dysfunction indicate the tubules as the main site of impairment, which was also found in the animal model for this disease, especially under metabolic decompensation. In addition to that, a mild progressive decline in glomerular filtration rates has been found in GA-1 patients, independently of treatment quality and neurologic outcomes. Taken together, such findings reveal the importance of further investigation on the association between GA-1 and kidney function, encompassing the need for adequate therapeutic approaches and biomarkers that target these alterations.