非酮症高甘氨酸血症。临床、生化及治疗方面。
Nonketotic hyperglycinemia. Clinical, biochemical and therapeutic aspects.
作者信息
Kølvraa S, Brandt N J, Christensen E
出版信息
Acta Paediatr Scand. 1979 Jul;68(4):629-34. doi: 10.1111/j.1651-2227.1979.tb05072.x.
Abstract
A patient exhibiting progressive cerebral depression from the first days of life is described. The diagnosis of nonketotic hyperglycinemia was established on the typical clinical presentation, elevated glycine concentrations in body fluids and diminished glycine cleavage activity in liver tissue. A series of therapeutic trials, including strychnine treatment, was tried on this patient without apparent effect on the clinical course.
摘要
描述了一名自出生第一天起就出现进行性脑抑制的患者。根据典型的临床表现、体液中甘氨酸浓度升高以及肝组织中甘氨酸裂解活性降低，确诊为非酮症高甘氨酸血症。对该患者进行了一系列治疗试验，包括士的宁治疗，但对临床病程没有明显影响。
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