title: Partial enzyme deficiencies: residual activities and the development of neurological disorders.
abstract: 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.
mesh_terms: D004798:Enzymes / Q000172:deficiency* / Q000378:metabolism; D005693:Galactosemias / Q000503:physiopathology; D005733:Gangliosidoses / Q000503:physiopathology; D005776:Gaucher Disease / Q000503:physiopathology; D006801:Humans; D007700:Kinetics; D007966:Leukodystrophy, Metachromatic / Q000503:physiopathology; D008661:Metabolism, Inborn Errors / Q000503:physiopathology; D008059:Mucopolysaccharidosis I / Q000503:physiopathology; D009085:Mucopolysaccharidosis IV / Q000503:physiopathology; D009422:Nervous System Diseases / Q000201:enzymology / Q000209:etiology / Q000503:physiopathology*; D009542:Niemann-Pick Diseases / Q000503:physiopathology
chemical_list: D004798:Enzymes