Pearl Phillip L, Taylor Jacob L, Trzcinski Stacey, Sokohl Alex
Department of Neurology, Children's National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA.
J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619.
The pediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterized by abnormalities of neurotransmitter synthesis and breakdown. The disorders of dopamine and serotonin synthesis are aromatic amino acid decarboxylase deficiency, tyrosine hydroxylase deficiency, and disorders of tetrahydrobiopterin synthesis. Amino acid decarboxylase, tyrosine hydroxylase, sepiapterin reductase, and guanosine triphosphate cyclohydrolase (Segawa disease) deficiencies do not feature elevated serum phenylalanine and require cerebrospinal fluid analysis for diagnosis. Segawa disease is characterized by dramatic and lifelong responsiveness to levodopa. Glycine encephalopathy is typically manifested by refractory neonatal seizures secondary to a defect of the glycine degradative pathway. gamma-amino butyric acid (GABA) metabolism is associated with several disorders, including glutamic acid decarboxylase deficiency with nonsyndromic cleft lip/ palate, GABA-transaminase deficiency, and succinic semialdehyde dehydrogenase deficiency. The latter is characterized by elevated gamma-hydroxybutyric acid and includes a wide range of neuropsychiatric symptoms as well as epilepsy. Pyridoxine-dependent seizures have now been associated with deficiency of alpha-aminoadipic semialdehyde dehydrogenase, as well as a new variant requiring therapy with pyridoxal-5-phosphate, the biologically active form of pyridoxine.
儿童神经递质紊乱代表了一组不断扩大的神经综合征，其特征为神经递质合成与分解异常。多巴胺和5-羟色胺合成紊乱包括芳香族氨基酸脱羧酶缺乏症、酪氨酸羟化酶缺乏症以及四氢生物蝶呤合成紊乱。氨基酸脱羧酶、酪氨酸羟化酶、蝶呤还原酶和三磷酸鸟苷环化水解酶（Segawa病）缺乏症的特点是血清苯丙氨酸不升高，需要进行脑脊液分析以明确诊断。Segawa病的特点是对左旋多巴有显著且终生的反应。甘氨酸脑病通常表现为因甘氨酸降解途径缺陷导致的难治性新生儿惊厥。γ-氨基丁酸（GABA）代谢与多种疾病相关，包括伴有非综合征性唇腭裂的谷氨酸脱羧酶缺乏症、GABA转氨酶缺乏症和琥珀酸半醛脱氢酶缺乏症。后者的特点是γ-羟基丁酸升高，包括广泛的神经精神症状以及癫痫。吡哆醇依赖性惊厥现在已与α-氨基己二酸半醛脱氢酶缺乏症以及一种需要用吡哆醇的生物活性形式磷酸吡哆醛进行治疗的新变体相关。
