Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders

作者：Ernst Conzelmann, Konrad Sandhoff · 发表于：Developmental Neuroscience · 年份：2007 · DOI：10.1159/000112332 · 被引用次数：275 · 研究领域：Metabolism and Genetic Disorders、Amino Acid Enzymes and Metabolism、Biochemical Acid Research Studies

A theoretical discussion on the correlation between residual enzyme activities in inherited enzyme deficiencies and the development of neurological disorders is presented, based on the kinetic analysis of a simple model. Several metabolic diseases with wide spectra of clinical presentation are discussed in relation to this model.