近亲沙特家族γ -氨基丁酸转氨酶(GABA-T)缺乏:1例报告和文献综述

IF 0.2 Q4 PEDIATRICS Journal of Pediatric Epilepsy Pub Date : 2022-10-28 DOI:10.1055/s-0042-1757447
A. Kentab
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引用次数: 0

摘要

γ -氨基丁酸转氨酶(GABA- t)缺乏症是一种罕见的常染色体隐性遗传病,由4-氨基丁酸转氨酶(ABAT)基因突变引起,该基因编码一种参与GABA分解代谢的酶。其特点是严重的精神运动迟缓、早发性癫痫性脑病、顽固性癫痫发作、张力低下、反射亢进、运动障碍、嗜睡和儿童早期死亡率。它与脑脊液(CSF)中游离GABA升高、培养淋巴细胞中GABA- t缺乏、脑磁共振成像(MRI)显示的髓鞘退化以及质子磁共振波谱(MRS)显示的基底节区GABA水平升高有关。文献中只发表了14例。一个罕见的婴儿癫痫性脑病引起的GABA-T缺乏导致以前未报道的纯合错义突变的ABAT基因被描述。我们的发现增加了ABAT突变的表型、神经放射学和遗传谱。
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Gamma-Aminobutyric Acid Transaminase (GABA-T) Deficiency in a Consanguineous Saudi Family: A Case Report and Literature Review
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder caused by mutations in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. It is characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, hyperreflexia, movement disorder, hypersomnolence, and early childhood mortality. It is associated with elevated free GABA in cerebrospinal fluid (CSF), GABA-T deficiency in cultured lymphoblasts, hypomyelination on brain magnetic resonance imaging (MRI), and elevated GABA level in the basal ganglia on proton magnetic resonance spectroscopy (MRS). Only 14 cases have been published in the literature. A rare case of infantile epileptic encephalopathy caused by GABA-T deficiency resulting from a previously unreported homozygous missense mutation in the ABAT gene is described. Our findings add to the phenotypic, neuroradiological, and genetic spectrum of ABAT mutations.
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期刊介绍: The Journal of Pediatric Epilepsy is an English multidisciplinary peer-reviewed international journal publishing articles on all topics related to epilepsy and seizure disorders, epilepsy surgery, neurology, neurosurgery, and neuropsychology in childhood. These topics include the basic sciences related to the condition itself, the differential diagnosis, natural history, and epidemiology of seizures, and the investigation and practical management of epilepsy (including drug treatment, neurosurgery and non-medical and behavioral treatments). Use of model organisms and in vitro techniques relevant to epilepsy are also acceptable. Journal of Pediatric Epilepsy provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis and treatment of childhood epilepsy.
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