Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
ALDH5A1
cookie-bite audiogram
gamma-aminobutyric acid
sensorineural hearing loss
succinic semialdehyde dehydrogenase deficiency
Journal
Balkan journal of medical genetics : BJMG
ISSN: 1311-0160
Titre abrégé: Balkan J Med Genet
Pays: Poland
ID NLM: 9806959
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
medline:
14
8
2023
pubmed:
14
8
2023
entrez:
14
8
2023
Statut:
epublish
Résumé
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-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in
Identifiants
pubmed: 37576789
doi: 10.2478/bjmg-2023-0008
pii: bjmg-2023-0008
pmc: PMC10413887
doi:
Types de publication
Case Reports
Langues
eng
Pagination
63-68Informations de copyright
© 2023 M Parezanović et al., published by Sciendo.
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