Succinic semialdehyde dehydrogenase deficiency.
- Author:
Xiao-Lu DENG
1
;
Fei YIN
;
Qiu-Lian XIANG
;
Chen-Tao LIU
;
Jing PENG
Author Information
1. Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
- Publication Type:Case Reports
- MeSH:
Amino Acid Metabolism, Inborn Errors;
diagnosis;
therapy;
Developmental Disabilities;
Diagnosis, Differential;
Female;
Humans;
Infant;
Succinate-Semialdehyde Dehydrogenase;
deficiency
- From:
Chinese Journal of Contemporary Pediatrics
2011;13(9):740-742
- CountryChina
- Language:Chinese
-
Abstract:
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEG) showed background slowing and focal spike discharges in all of 3 patients. Head magnetic resonance imaging (MRI) demonstrated abnormalities in 2 patients, including basal ganglia damage and increased T2-weighted signal in bilateral cerebral peduncles. Urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS) revealed increased levels of 4-hydroxybutyrate (GHB) in 3 patients. SSADH deficiency was definitely diagnosed based on the clinical manifestations and the results of urinary organic acid analysis in the 3 children. It was concluded that early urine organic acid analysis is essential for children presenting with mental retardation, neuropsychiatric disturbance or epilepsy of unknown etiology.
