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Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language deficits, movement disorders, epilepsy, sleep disturbances, attention problems, anxiety, and obsessive-compulsive traits. Current treatment options for SSADHD remain supportive, but there are ongoing attempts to develop targeted genetic therapies. This study aimed to create consensus guidelines for the diagnosis and management of SSADHD. Thirty relevant statements were initially addressed by a systematic literature review, resulting in different evidence levels of strength according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria. The highest level of evidence (level A), based on randomized controlled trials, was unavailable for any of the statements. Based on cohort studies, Level B evidence was available for 12 (40%) of the statements. Thereupon, through a process following the Delphi Method and directed by the Appraisal of Guidelines for Research and Evaluation (AGREE II) criteria, expert opinion was sought, and members of an SSADHD Consensus Group evaluated all the statements. The group consisted of neurologists, epileptologists, neuropsychologists, neurophysiologists, metabolic disease specialists, clinical and biochemical geneticists, and laboratory scientists affiliated with 19 institutions from 11 countries who have clinical experience with SSADHD patients and have studied the disorder. Representatives from parent groups were also included in the Consensus Group. An analysis of the survey's results yielded 25 (83%) strong and 5 (17%) weak agreement strengths. These first-of-their-kind consensus guidelines intend to consolidate and unify the optimal care that can be provided to individuals with SSADHD.

Competing Interests: Declaration of competing interest None.

Titel:	Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Autor/in / Beteiligte Person:	Tokatly Latzer, I ; Bertoldi, M ; Blau, N ; DiBacco, ML ; Elsea, SH ; García-Cazorla, À ; Gibson, KM ; Gropman, AL ; Hanson, E ; Hoffman, C ; Jeltsch, K ; Juliá-Palacios, N ; Knerr, I ; Lee, HHC ; Malaspina, P ; McConnell, A ; Opladen, T ; Oppebøen, M ; Rotenberg, A ; Walterfang, M ; Wang-Tso, L ; Wevers, RA ; Roullet, JB ; Pearl, PL
Link:	Zum Volltext
Zeitschrift:	Molecular genetics and metabolism, Jg. 142 (2024-05-01), Heft 1, S. 108363
Veröffentlichung:	Orlando, FL : Academic Press, c1998-, 2024
Medientyp:	academicJournal
ISSN:	1096-7206 (electronic)
DOI:	10.1016/j.ymgme.2024.108363
Schlagwort:	Humans Consensus gamma-Aminobutyric Acid metabolism Practice Guidelines as Topic Succinate-Semialdehyde Dehydrogenase deficiency Succinate-Semialdehyde Dehydrogenase genetics Amino Acid Metabolism, Inborn Errors diagnosis Amino Acid Metabolism, Inborn Errors therapy Amino Acid Metabolism, Inborn Errors genetics Developmental Disabilities
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Practice Guideline Language: English [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108363. <i>Date of Electronic Publication: </i>2024 Mar 04. MeSH Terms: Succinate-Semialdehyde Dehydrogenase* / deficiency ; Succinate-Semialdehyde Dehydrogenase / genetics ; Amino Acid Metabolism, Inborn Errors* / diagnosis ; Amino Acid Metabolism, Inborn Errors* / therapy ; Amino Acid Metabolism, Inborn Errors* / genetics ; Developmental Disabilities* ; Humans ; Consensus ; gamma-Aminobutyric Acid / metabolism ; Practice Guidelines as Topic References: J Inherit Metab Dis. 2023 Sep;46(5):992-1003. (PMID: 37219411) ; JIMD Rep. 2012;2:119-23. (PMID: 23430864) ; J Child Neurol. 2015 Mar;30(4):486-9. (PMID: 25246302) ; Sleep. 2009 Dec;32(12):1645-8. (PMID: 20041601) ; Int J Mol Sci. 2022 Feb 26;23(5):. (PMID: 35269750) ; Eur J Pediatr. 1992 Jun;151(6):466. 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(PMID: 7609441) Grant Information: P50 HD105351 United States HD NICHD NIH HHS; R01 HD091142 United States HD NICHD NIH HHS; R21 NS121858 United States NS NINDS NIH HHS Contributed Indexing: Keywords: GABA; Inherited metabolic disorders; Management; Neurotransmitters; Recommendations; SSADH Substance Nomenclature: EC 1.2.1.24 (Succinate-Semialdehyde Dehydrogenase) ; EC 1.2.1.24 (ALDH5A1 protein, human) ; 56-12-2 (gamma-Aminobutyric Acid) SCR Disease Name: succinic semialdehyde dehydrogenase deficiency Entry Date(s): Date Created: 20240307 Date Completed: 20240506 Latest Revision: 20240509 Update Code: 20240509 PubMed Central ID: PMC11073920

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.