Ishiguro Y, Kajita M, Aoshima T, Watanabe K, Kimura M, Yamaguchi S
Department of Pediatrics, Nagoya University School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550, Japan.
Brain Dev. 2001 Mar;23(2):128-30. doi: 10.1016/s0387-7604(01)00181-4.
We report a boy with 4-hydroxybutyric aciduria resulting from a deficiency of succinic semialdehyde dehydrogenase (SSADH). A boy, 1 year 5 months, showed delayed walk with hypotonia and could not speak meaningful words. The blood levels of lactate, pyruvate and amino acids were not elevated. Head magnetic resonance imaging (MRI) and electroenchephalography (EEG) were normal. Urinary organic acid analysis with gas chromatography-mass spectrometry (GCMS) revealed increased levels of 4-hydroxybutyric acid, glutaric acid, adipic acid and suberic acid. The concentrations of 4-hydroxybutyric acid and gamma-aminobutyric acid (GABA) were elevated in the serum and cerebrospinal fluid (CSF). SSADH activity in cultured lymphoblasts was 4.5% of the normal level. So far as we know this is the first Japanese patient diagnosed as 4-hydroxybutyric acid. Urinary organic acid analysis is necessary for the diagnosis of patients with unexplained psychomotor retardation.
我们报告了一名因琥珀酸半醛脱氢酶（SSADH）缺乏导致4-羟基丁酸尿症的男孩。一名1岁5个月的男孩出现行走延迟伴肌张力减退，且不会说有意义的词语。血液中乳酸、丙酮酸和氨基酸水平未升高。头部磁共振成像（MRI）和脑电图（EEG）均正常。采用气相色谱-质谱联用（GCMS）进行尿有机酸分析，结果显示4-羟基丁酸、戊二酸、己二酸和辛二酸水平升高。血清和脑脊液（CSF）中4-羟基丁酸和γ-氨基丁酸（GABA）的浓度升高。培养的淋巴母细胞中SSADH活性为正常水平的4.5%。据我们所知，这是首例被诊断为4-羟基丁酸尿症的日本患者。对于不明原因精神运动发育迟缓的患者，尿有机酸分析对于诊断很有必要。
