Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report

Categoría del artículo: Case report

Publicado en línea: 05 sept 2022

Recibido: 14 feb 2022

Aceptado: 01 ago 2022

DOI: https://doi.org/10.2478/joepi-2022-0003

Palabras clave

SSADHD (Succinic semialdehyde dehydrogenase deficiency), ALDH5A1 gene, GHB (γ-hydroxybutyric acid), GABA (γ-aminobutyric acid)

© 2022 Stella Mouskou, published by Sciendo

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