Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with thi...

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Bibliographic Details
Main Authors: Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A
Format: Article
Language:English
Published: Sciendo 2023-07-01
Series:Balkan Journal of Medical Genetics
Subjects:
aldh5a1
cookie-bite audiogram
gamma-aminobutyric acid
sensorineural hearing loss
succinic semialdehyde dehydrogenase deficiency
Online Access:https://doi.org/10.2478/bjmg-2023-0008

Internet

https://doi.org/10.2478/bjmg-2023-0008

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