GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.
GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.
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DOI：
10.1136/bcr.03.2011.3927
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发表时间：
2011-06-09
期刊：
影响因子：
0.9
通讯作者：
Brent DA
中科院分区：
文献类型：
--
作者：
Pan L;McKain BW;Madan-Khetarpal S;Mcguire M;Diler RS;Perel JM;Vockley J;Brent DA
作者描述了一个新的变异鸟苷三磷酸（GTP）环水解酶缺乏症的严重和致残的严重抑郁症的年轻男子与多个几乎致命的自杀企图。他的脑脊液水平显示，四氢生物蝶呤（BH 4）、新蝶呤、5-羟基吲哚乙酸和高香草酸的浓度低于参考范围，表明蝶呤生物合成途径以及多巴胺和5-羟色胺合成存在缺陷，表明GTP环化水解酶缺乏。患者开始接受沙丙蝶呤（一种BH 4替代蛋白）治疗上述途径的缺陷。此外，作者开始口服5-羟色氨酸滴定至400 mg，每日两次，伴随口服卡比多巴37.5 mg，每日四次，他的自杀意念缓解，抑郁和功能显著改善。
The authors describe a new variant of guanosine triphosphate (GTP)- cyclohydrolase deficiency in a young man with severe and disabling major depressive disorder with multiple near-lethal suicide attempts. His cerebrospinal fluid levels showed that the concentration of tetrahydrobiopterin (BH4), neopterin, 5-hydroxyindoleacetic acid and homovanillic acid were below the reference range, suggesting a defect in the pterin biosynthetic pathway and in synthesis of dopamine and serotonin indicative of GTP-cyclohydrolase deficiency. Patient was started on sapropterin, a BH4 replacement protein, for the defect in the above pathway. In addition, the authors started 5-hydroxytryptophan titrated to 400 mg orally twice daily with concomittant carbidopa 37.5 mg orally four times a day, and he responded with remission of suicidal ideation and significant improvement in depression and function.