Balkan Journal of Medical Genetics

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

INTRODUCTION

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder of gammaaminobutyric acid (GABA) metabolism.1,2 The enzyme SSADH, in conjunction with GABA transaminase, converts GABA to succinic acid and its reduced or absent function leads to an excessive production of gamma-hydroxybutyric acid (GHB). Accumulation of GABA and GHB in physiological fluids is the primary metabolic abnormality in patients with SSADH deficiency. The gene ALDH5A1 coding for SSADH synthesis has been mapped on chromosome 6p22.3 Substantial reduction of SSADH activity is associated with varying severity of neurologic abnormalities.2,4 The worldwide prevalence of SSADH deficiency is estimated at 1:460 000, with approximately 450 patients reported worldwide so far.5 This rare, inherited neurotransmitter disorder typically presents in childhood with devel- opmental delay, hypotonia, and ataxia as major features. Seizures occur in approximately 60% of the patients.2,6 Approximately 10% of the patients show a progressive course with developmental regression and debilitating extrapyramidal manifestations. A very early onset and fulminant course, which could result in fatal outcomes during infancy, has also been described in several patients.7 On the other hand, SSADH deficiency may present in late childhood and adulthood, with varying degrees of cognitive, behavioral or sleep disturbances, along with a significant prevalence of seizures.8,9 We present a male patient with confirmed SSADH deficiency and associated sensorineural hearing loss (SNHL). To the best of our knowledge, hearing impairment has not been reported in SSADH deficiency patients so far. Links between disturbed GABA neurotransmission and auditory abnormalities have been investigated mainly in elderly and animal models.10,11

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