中国当代儿科杂志2011，Vol.13Issue(9)：740-742,3.
琥珀酸半醛脱氢酶缺陷病
Succinic semialdehyde dehydrogenase deficiency
邓小鹿 1尹飞 1向秋莲 1刘沉涛 1彭镜1
作者信息
- 1. 中南大学湘稚医院儿科,湖南,长沙,410008
- 折叠
摘要
Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. Hie infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEC) 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 (CHB) 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.关键词
琥珀酸半醛脱氢酶缺陷病/4-羟基丁酸/儿童Key words
Succinic semialdehyde dehydrogenase deficiency/ 4-hydroxybutyrate/ Child分类
医药卫生引用本文复制引用
邓小鹿,尹飞,向秋莲,刘沉涛,彭镜..琥珀酸半醛脱氢酶缺陷病[J].中国当代儿科杂志,2011,13(9):740-742,3.
