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Authors
Spagnoli, Giulia https://orcid.org/0009-0003-5107-2530
Cesaro, Samuele https://orcid.org/0009-0005-0922-7652
Carmona Carmona, Cristian Andres https://orcid.org/0000-0003-1412-6512
Tonduti, Davide https://orcid.org/0000-0001-9371-7454
Bruschi, Fabio https://orcid.org/0000-0002-4419-7381
Belacchi, Valentina
Paganini, Stefania https://orcid.org/0009-0006-1174-1228
Tokatly-Latzer, Itay https://orcid.org/0000-0003-3132-1379
Pearl, Phillip L. https://orcid.org/0000-0002-6373-1068
Bisello, Giovanni https://orcid.org/0000-0002-3803-9555
Didiasova, Miroslava https://orcid.org/0009-0005-1998-7559
Tikkanen, Ritva https://orcid.org/0000-0002-8393-1825
Bertoldi, Mariarita https://orcid.org/0000-0002-2337-9928
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Funding
Funding for this research was provided by:
SSADH-Defizit e.V. , Germany (2019-01 - 2023-01)
De Neu Asociación de Enfermedades de los Neurotrasmisores , Spain (1)
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Article History
Received: 18 April 2026
Accepted: 14 July 2026
First Online: 17 July 2026
Declarations
Competing interests: The authors declare no competing interests.
Ethics approval and informed consent: All procedures were in accordance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Written informed consent for this work was obtained from the patient’s parents or legal caregivers. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. The Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Natural History Study (NHS) is approved by the Boston Children’s Hospital Institutional Review Board (#P00029917). All participants in the SSADH Deficiency NHS reviewed and signed an informed consent form.
