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Journals
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 1 (July 2023)
Open Access
Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
M Parezanović
M Parezanović
,
N Ilić
N Ilić
,
S Ostojić
S Ostojić
,
G Stevanović
G Stevanović
,
J Ječmenica
J Ječmenica
,
A Maver
A Maver
and
A Sarajlija
A Sarajlija
| Jul 31, 2023
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 1 (July 2023)
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Article Category:
Case Report
Published Online:
Jul 31, 2023
Page range:
63 - 68
DOI:
https://doi.org/10.2478/bjmg-2023-0008
Keywords
ALDH5A1
,
cookie-bite audiogram
,
gamma-aminobutyric acid
,
sensorineural hearing loss
,
succinic semialdehyde dehydrogenase deficiency
© 2023 M Parezanović et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1.
Brain MRI scan at the age of 15 months in a boy with SSADH deficiency revealing incomplete myelination and signal hyperintensity in globi pallidi
Figure 2.
Audiogram approximation showing “cookie bite” type of symmetric sensorineural hearing impairment