γ-氨基丁酸代谢的遗传性疾病。
Inherited disorders of GABA metabolism.
作者信息
Pearl Phillip L, Hartka Thomas R, Cabalza Jessica L, Taylor Jacob, Gibson Michael K
机构信息
Children's National Medical Center, Department of Neurology, 111 Michigan Avenue, NW Washington, DC 20010-2970, USA, Tel.: +1 202 884 2120; ;
出版信息
Future Neurol. 2006 Sep;1(5):631-636. doi: 10.2217/14796708.1.5.631.
The inherited disorders of γ-amino butyric acid (GABA) metabolism require an increased index of clinical suspicion. The known genetic disorders are GABA-transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency and homocarnosinosis. A recent link has also been made between impaired GABA synthesis and nonsyndromic cleft lip, with or without cleft palate. SSADH deficiency is the most commonly occurring of the inherited disorders of neurotransmitters. The disorder has a nonspecific phenotype with myriad neurological and psychiatric manifestations, and usually has a nonprogressive temporal course. Diagnosis is made by the detection of γ-hydroxybutyrate excretion on urine organic acid testing. The most consistent magnetic resonance imaging abnormality is an increased signal in the globus pallidus. Magnetic resonance spectroscopy has demonstrated the first example of increased endogenous GABA in human brain parenchyma in this disorder. GABA-transaminase deficiency and homocarnosinosis appear to be very rare, but require cerebrospinal fluid for detection, thus allowing for the possibility that these entities, as in the other inherited neurotransmitter disorders, are under-recognized.
γ-氨基丁酸（GABA）代谢的遗传性疾病需要提高临床怀疑指数。已知的遗传性疾病有GABA转氨酶缺乏症、琥珀酸半醛脱氢酶（SSADH）缺乏症和高肌肽血症。最近还发现，GABA合成受损与非综合征性唇裂（伴或不伴腭裂）之间存在联系。SSADH缺乏症是最常见的遗传性神经递质疾病。该疾病具有非特异性表型，有众多神经和精神表现，且通常呈非进行性病程。通过尿液有机酸检测中γ-羟基丁酸排泄情况进行诊断。最一致的磁共振成像异常是苍白球信号增强。磁共振波谱已证实该疾病中人类脑实质内内源性GABA增加的首个实例。GABA转氨酶缺乏症和高肌肽血症似乎非常罕见，但需要脑脊液检测，因此有可能像其他遗传性神经递质疾病一样，这些疾病未得到充分认识。
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