Guidelines for diagnosis and treatment of SSADHD

The guidelines were formed by an “SSADHD Consensus Group” including 23 participants from 19 institutions representing 11 countries from four continents.

The group consisted of healthcare professionals including neurologists, metabolic specialists, neuropsychologists, clinical and biochemical geneticists, laboratory scientists, and representatives from parent groups.

This diverse group carried out a systematic literature review of SSADHD-related publications from the PubMed and Cochrane databases. The search included all the English-written peer-reviewed manuscripts published since 1981 (the year the first case report of SSADHD was published) through October 2023.

The Guidelines will be published this May in the Molecular Genetics and Metabolism journal titled as Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

It is with gratitude that we thank Dr. Itay Tokatly Latzer, Jean-Baptiste Roullet, PhD. and Dr. Phillip Pearl for bringing this project to fruition. We also want to thank each of the participants for sharing their unique expertise and working together to make this possible.