Da Gloria E R, Assunção J G, Costa M A
Faculdade de Medicina, UFMG.
Med Cutan Ibero Lat Am. 1990;18(4):227-31.
Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.
无氨基酸尿症或其他已确定代谢紊乱的哈氏病临床表现(新病种?)。作者报告了一名患者,其临床表现叠加于哈氏病之上,哈氏病是一种罕见的常染色体隐性代谢紊乱疾病,其特征为由于空肠黏膜和肾小管对色氨酸及其他中性氨基酸转运缺陷导致典型的氨基酸尿症,临床表现为光敏性糙皮病样皮炎、智力发育迟缓及间歇性小脑共济失调。实验室检查结果未证实该患者存在哈氏病氨基酸尿症,也未发现其他可解释其临床表现的已确定代谢变化。