Detection of Human Inborn Errors of Metabolism by Examination of Urinary Metabolites

[摘要] An increasing number of recessively inherited human diseases are being explained in terms of a missing or defective enzyme. The resulting aberration of metabolism is reflected, in many cases, in an altered composition of metabolites in the urine and other body fluids. Progress in this field is dependent on making the initial association between a familial disease and an aberration of body chemistry. The development of comprehensive analytic systems for the detection of abnormal quantities or kinds of metabolites in biologic fluids obtained from patients with inherited diseases should greatly facilitate this process. Biochemical characterization, at an enzyme level, then becomes possible and is essential for improved diagnosis and rational approaches to treatment of the disease.

[学科分类] 过敏症与临床免疫学