脑脊液神经递质研究。一名患有抗坏血酸反应性酪氨酸血症的婴儿。

CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.

作者信息

Stoerner J W, Butler I J, Morriss F H, Howell R R, Seifert W E, Caprioli R M, Adcock E W, Denson S E

出版信息

Am J Dis Child. 1980 May;134(5):492-4. doi: 10.1001/archpedi.1980.02130170042014.

DOI:10.1001/archpedi.1980.02130170042014

Abstract

A female newborn infant with Marfan-like habitus experienced lethargy and hypothermia associated with tyrosinemia that was not corrected by the administration of ascorbic acid at 50 mg/day but that subsequently responded to ascorbic acid at 500 mg/day. Cerebrospinal fluid analysis for neurotransmitter metabolites showed elevated concentrations of homovanillic acid and 5-hydroxyindoleacetic acid when the child was symptomatic and normal concentrations after successful ascrobic acid therapy. These observations suggest that a high level of tyrosine in serum can affect the metabolism in the brain of dopamine and serotonin.

摘要

一名具有马凡氏体型的女新生儿出现嗜睡和体温过低，与酪氨酸血症有关，每天给予50毫克维生素C未能纠正，但随后对每天500毫克维生素C有反应。对神经递质代谢产物进行的脑脊液分析显示，患儿出现症状时高香草酸和5-羟吲哚乙酸浓度升高，维生素C治疗成功后浓度恢复正常。这些观察结果表明，血清中高水平的酪氨酸会影响大脑中多巴胺和血清素的代谢。