The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

doi:10.1002/jimd.12723

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Article

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 May 2024

Julia-Palacios Natalia Alexandra, Kuseyri Hübschmann Oya, Olivella Mireia, Pons Roser, Horvath Gabriella, Lücke Thomas, Fung Cheuk-Wing, Wong Suet-Na, Cortès-Saladelafont Elisenda, Rovira-Remisa M Mar, Yıldız Yılmaz, Mercimek-Andrews Saadet, Assmann Birgit, Stevanović Galina, Manti Filippo, Brennenstuhl Heiko, Jung-Klawitter Sabine, Jeltsch Kathrin, Sivri H Serap, Garbade Sven F, García-Cazorla Àngels, Opladen Thomas

Abstract excerpt

The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico...

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Identifiers

PMID: 38499966
DOI: 10.1002/jimd.12723

Genes

ALDH5A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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