Biochemistry Section, Department of Laboratory Medicine, P.D. Hinduja Hospital & Medical Research Center, Veer Savarkar Marg, Mahim, Mumbai, Maharashtra, 400016, India.
Department of Chemistry, Satish Pradhan Dnyanasadhana College, Thane, Maharashtra, India.
Indian J Pediatr. 2021 Dec;88(12):1241-1243. doi: 10.1007/s12098-021-03956-6. Epub 2021 Sep 20.
Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotransmitter disorders. These are a well-recognized groups of inherited disorders and often present with features overlapping with other neurological conditions. Their diagnosis is made by analysis of biogenic amine metabolites in cerebrospinal fluid (CSF) and other body fluids and respective enzyme assays. Many of these disorders are treatable and deficits can be reverted by timely intervention. CSF biogenic amine or cofactor metabolite analysis is one of the primary indicators of a neurotransmitter disorder. In this paper, 3 cases are reported-2 of cofactor deficiency and 1 with enzyme deficiency wherein biogenic amine estimation has assisted in diagnosis.
生物胺神经递质代谢是一个多步骤的途径，蝶呤和吡哆醛磷酸（维生素 B6）作为辅助因子。生物胺和辅助因子代谢以及囊泡转运体的缺陷导致原发性神经递质紊乱。这些是一组公认的遗传性疾病，常与其他神经疾病的特征重叠。它们的诊断是通过分析脑脊液（CSF）和其他体液中的生物胺代谢物以及相应的酶分析来确定的。许多这些疾病是可治疗的，并且可以通过及时干预来逆转缺陷。CSF 生物胺或辅助因子代谢物分析是神经递质紊乱的主要指标之一。本文报告了 3 例病例 - 2 例为辅助因子缺乏症，1 例为酶缺乏症，其中生物胺测定有助于诊断。
