毛发硫营养不良:采用叠氮化钠依赖的氧化技术把半胱氨酸氧化成磺基丙氨酸测定人毛发和甲中半胱氨酸的含量  

Trichothiodystrophy: Quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid

作　　者：Sass J.O. Skladal D. Zelger B. 罗素菊 冯义国 

机构地区：[1]Stoffwechsellabor, Zentrum Kinderheilkunde/Jugendmed., Universit tsklinikum Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2005年第2期56-56,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：The term "trichothiodystrophy"(TTD) covers several autosomal recessive diseases whose diagnostic hallmark is short, brittle hair low in sulfur and cystine because of impaired synthesis of high-sulfur matrix protein. Clinical symptoms associated with TTD represent a variable range of abnormalities in organs derived from ectoderm and neuroectoderm. Important laboratory tests of the hair for the diagnosis of TTD comprise polarizing microscopy ("tiger-tail"pattern), electron microscopy, and amino acids analysis of hydrolyzed hair with a special focus on cystine. However, only very few institutions determine the amino acid composition of human hair and nail clippings, which requires special sample preparation including hydrolysis. If no special precautions are taken, quantification of cysteine and cystine becomes inaccurate because of decomposition of these residues during hydrolysis. We therefore performed the sample work-up with azide-dependent oxidation which we have for the first time adapted for analysis of hair and nail clippings. With our control and parent data resembling published data on hair and nail samples, we obtained a decreased proportion of cysteine (half cystine, determined as cysteic acid) in materials obtained from a boy with TTD. Clearly, the method for the quantification of cysteine following sodium azide-dependent oxidation is a suitable and rather convenient approach to the quantification of cyst(e)ine and other amino acids in hair and nail proteins, and is a valuable contribution to the diagnosis of TTD.The term 'trichothiodystrophy'(TTD) covers several autosomal recessive diseases whose diagnostic hallmark is short, brittle hair low in sulfur and cystine because of impaired synthesis of high-sulfur matrix protein. Clinical symptoms associated with TTD represent a variable range of abnormalities in organs derived from ectoderm and neuroectoderm. Important laboratory tests of the hair for the diagnosis of TTD comprise polarizing microscopy ('tiger-tail'pattern), electron microscopy, and amino acids analysis of hydrolyzed hair with a special focus on cystine. However, only very few institutions determine the amino acid composition of human hair and nail clippings, which requires special sample preparation including hydrolysis. If no special precautions are taken, quantification of cysteine and cystine becomes inaccurate because of decomposition of these residues during hydrolysis. We therefore performed the sample work-up with azide-dependent oxidation which we have for the first time adapted for analysis of hair and nail clippings. With our control and parent data resembling published data on hair and nail samples, we obtained a decreased proportion of cysteine (half cystine, determined as cysteic acid) in materials obtained from a boy with TTD. Clearly, the method for the quantification of cysteine following sodium azide-dependent oxidation is a suitable and rather convenient approach to the quantification of cyst(e)ine and other amino acids in hair and nail proteins, and is a valuable contribution to the diagnosis of TTD.

关 键 词：毛发硫营养不良 磺基丙氨酸 叠氮化钠 神经外胚层 试验室检查 电镜检查 氨基酸成分 诊断特点 特殊准备 偏振显微镜 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]