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Cited by 52Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismGlycogen Storage Diseases and Myoclonus

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

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Didiasova, Miroslava, Banning, Antje, Brennenstuhl, Heiko, Jung-Klawitter, Sabine, Cinquemani, Claudio, Opladen, Thomas, Tikkanen, Ritva·2020·Cells
DOI 10.3390/cells9020477PMC PMC7072817
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Abstract

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degrees of mental retardation, autism, ataxia, and epileptic seizures, but the clinical picture is highly heterogeneous. So far, there is no approved curative therapy for this disease. In this review, we briefly summarize the molecular genetics of SSADH-D, the past and ongoing clinical trials, and the emerging features of the molecular pathogenesis, including redox imbalance and mitochondrial dysfunction. The main aim of this review is to discuss the potential of further therapy approaches that have so far not been tested in SSADH-D, such as pharmacological chaperones, read-through drugs, and gene therapy. Special attention will also be paid to elucidating the role of patient advocacy organizations in facilitating research and in the communication between researchers and patients.

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Cited by

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Authors
Didiasova, M., Banning, A., Brennenstuhl, H., Jung-Klawitter, S., Cinquemani, C., Opladen, T., & Tikkanen, R.
Affiliations
  • Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany
  • Justus-Liebig-Universität Gießen (DE)
  • Heidelberg University (DE)
  • Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Children’s Hospital Heidelberg, 69120 Heidelberg, Germany
  • SSADH-Defizit e.V., Leipziger Platz 5, 50733 Cologne, Germany
Corresponding author
Tikkanen, Ritva
ORCID
Venue
Cells
Publisher
MDPI AG
Published
2020-02-19
Volume
9
Issue
2
Pages
477
ISSN
2073-4409 (ISSN-L)
DOI
10.3390/cells9020477
PMC
PMC7072817
OpenAlex
W3001452379
Cited by
52
References
2
Citations by year
2026: 7 · 2025: 6 · 2024: 13 · 2023: 9 · 2022: 5 · 2021: 7 · 2020: 4
FWCI
0.80
Type
journal article
Language
en
Open access
Licence
Locations
  • Cells (publishedVersion, cc-by)
  • Preprints.org (acceptedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • SSADH Association (n.a.)
  • SSADH-Defizit e.V. (2018-001-Tik)
  • Dietmar Hopp Foundation (n.a.)
  • Arbeitsgemeinschaft Pädiatrischer Stoffwechselerkrankungen (n.a.)
  • Physician-Scientist Program at Ruprecht-Karls-University Heidelberg Faculty of Medicine (H.B.)
  • SSADH-Defizit (T.O.)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
Keywords
succinic semialdehyde dehydrogenase deficiency, GABA metabolism, mitochondrial enzyme deficiency, molecular genetics, redox imbalance, mitochondrial dysfunction, pharmacological chaperones, gene therapy, clinical trials, intellectual disability, autism spectrum disorder, ataxia, epileptic seizures, patient associations
MeSH terms
Adult, Amino Acid Metabolism, Inborn Errors, Animals, Child, Developmental Disabilities, Clinical Trials as Topic, Disease Models, Animal, gamma-Aminobutyric Acid, Humans, Mutation, Genetic Therapy, Succinate-Semialdehyde Dehydrogenase, Mice, Enzyme Replacement Therapy, Molecular Targeted Therapy

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