Glutaric Aciduria Type 1 ; Does it Effect of Hearing Function?

Abstract The main objective of this study was to observe the audiological findings of patients with Glutaric Aciduria Type 1 (GA-1), which is very difficult to evaluate and diagnose due to limited scientific literature. We used an audiological test battery to evaluate the study group of 17 individuals with GA-1 diagnosis and the control group of 20 healthy individuals. Following the otoscopic examination, the audiological test battery consisting of pure-tone hearing threshold (PTA) test, immittancemeter, distortion product otoacoustic emissions (DPOAE), contralateral suppression of otoacoustic emissions, and auditory brainstem response (ABR) measurements were applied to all participants (N=37).DPOAE amplitudes and the contralateral distortion product suppression values were significantly lower in the study group compared to control group (p < 0,05). In the study group, although they had a normal hearing level, there were morphologically different ABR waves than the control group, which was considered a remarkable finding. As well as I-V interpeak latency, the absolute latencies of I, III, and V waves ABR of the study group, were observed to be prolonged significantly compared to the control group (p < 0,05). Our findings support that GA-1 disease of association with auditory damage. The use of otoacoustic emissions and ABR measurements in the audiological test battery would be useful tool in the early diagnosis and follow-up of hearing sensivity individuals with GA-1.