SENSORINEURAL HEARING LOSS IN A CHILD WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A
*Corresponding Author: Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; e-mail: adrijans2004@yahoo.com
page: 63
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Abstract
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 this inherited
neurotransmitter disorder. We report on a five-yearold
male patient, homozygous for the pathogenic variant
(NM_170740:c.1265G>A) in ALDH5A1 presenting with
an unexpected association of typical SSADH deficiency
manifestations with bilateral sensorineural hearing loss
(SNHL). Brainstem evoked response audiometry (BERA)
testing showed mid-frequency sensorineural hearing damage
that suggested a hereditary component to SNHL.
Whole exome sequencing (WES) failed to discern other
genetic causes of deafness. Several variants of uncertain
significance (VUS) detected in genes known for their role
in hearing physiology could not be verified as the cause
for the SNHL. It is known that central auditory processing
depends on a delicate balance between excitatory and inhibitory
neurotransmission, and GABA is known to play a
significant role in this process. Additionally, excessive concentrations
of accumulated GABA and GBH are known to
cause a down-regulation of GABA receptors, which could
have an adverse influence on hearing function. However,
these mechanisms are very speculative in context of SNHL
in a patient with inherited disorder of GABA metabolism.
Injury of the globi pallidi, one of hallmarks of SSADH
deficiency, could also be a contributory factor to SNHL, as
was suspected in some other inborn errors in metabolism.
We hope that this case will contribute to the understanding
of phenotypic complexity of SSADH deficiency.
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