Audiological findings in glutaric asiduria type 1

Glutaric Asiduri Type 1 is an organic type of asiduri which shows autosomal recessive properties and is caused by the defects in the enzyme required for mitochondria. The main objective of this study was to observe the audiologic findings of patients with Glutaric asiduri Type 1, which has limited scientific literature and thus very difficult to evaluate and diagnose. In the study, which consists of 17 patients diagnosed with glutaric asiduri Type 1 as the experiment group and 20 healthy individuals as the control group, all the subjects have been evaluated by using audiological test battery. Following the otoscopic examination, pure tone audiometry hearing tests, timpanometric evaluations, otoacustic emission and contra lateral suppression measurements, as well as the measurements of auditory brainstem response evaluations were carried out in all subjects. In the study group, distortion product emission amplitudes and the measured values of contralateral distortion product suppression were significantly lower than those of the control group (p<0.05). In the analysis of the study group, although they have normal hearing ability or a level close to the normal, it has been found that they have morphologically different auditory brainstem responses than the control group, which is considered as a remarkable finding. When the absolute latencies of auditory brainstem responses of the experiment group were examined, the wave absolute latencies of I, III and IV, as well as interpic latencies of I-V were observed to be prolonged significantly compared to the control group (p<0.05).As a result of we emphasise that the study person diagnosed GA-1 whose early detection and using audiologic test equipment beneficial for them. Key Words: Glutaric Asiduri Type 1, hearing, Audiology findings