4-Hydroxybutyric Acid and the Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency, an Inborn Error of GABA Metabolism

1998 ◽  
Vol 29 (01) ◽  
pp. 14-22 ◽  
Author(s):  
K. Gibson ◽  
C. Hoffmann ◽  
A. Hodson ◽  
T. Bottiglieri ◽  
C. Jakobs
Keyword(s):  
Inborn Error ◽  
Dehydrogenase Deficiency ◽  
Clinical Phenotype ◽  
Succinic Semialdehyde ◽  
Hydroxybutyric Acid ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Gaba Metabolism ◽  
Semialdehyde Dehydrogenase ◽  
Succinic Semialdehyde Dehydrogenase Deficiency

scholarly journals Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism

2021 ◽  
pp. 088307382110283
Author(s):  
Mousumi Bose ◽  
Jean-Baptiste Roullet ◽  
K. Michael Gibson ◽  
William B. Rizzo ◽  
Hana M. Mansur ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Family Caregivers ◽  
Dehydrogenase Deficiency ◽  
Rare Disorder ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Gaba Metabolism ◽  
Semialdehyde Dehydrogenase ◽  
Succinic Semialdehyde Dehydrogenase Deficiency

Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although there is a growing interest in the concept of quality of life through patient reports as a meaningful outcome in rare disease clinical trials, little is known about the overall impact of SSADHD from the patient/family perspective. The purpose of this study was to determine issues related to quality of life and patient/family experience through a focus group discussion with family caregivers of patients with SSADHD. The discussion included the input of 5 family caregivers, and highlighted concerns related to physical function, cognitive and intellectual function, psychological and behavioral function, social function, and family impact. These themes represent appropriate starting points in the development of a quality-of-life survey that may serve as a meaningful clinical tool in future studies of SSADHD.

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