MetaNet,             A Computer Program               for Neural Network Aided               Diagnosis of Inherited               Metabolic Diseases                             J. Pepper, ServiceWare Inc., Pittsburgh,             Principal Investigator               C. E. Wyatt, Applied Analytic Systems Inc.,             Pittsburgh, PA, MetaNet Technical Developer               D.C. Lehotay and J.T.R. Clarke, Medical Consultants, The University             of Toronto Hospital for Sick Children, Ontario,             Canada               We have developed a             prototype computer program, MetaNet, that uses a             combination of artificial neural networks and             knowledge-based expert systems to assist in the             diagnosis of inborn errors of metabolism in children.                           Results of amino             acid analysis data of normal children, and of             patients diagnosed with a number of amino acid and             organic acid abnormalities were used as inputs to             train the neural network component of the program. To             diagnose new cases, plasma or urinary amino acid             results are entered. The knowledge-based expert             system then asks questions of the user regarding the             presence or absence of common clinical and/or             biochemical abnormalities.               Using both the amino             acid data and the answers to the questions, the             MetaNet program integrates the output of the neural             network and the results of the knowledge-based expert             system to yield a provisional diagnosis.               The diagnostic             output is accompanied by a numerical *belief vector*,             which indicates the degree of confidence of the             program in the diagnosis. Altering any of the input             variables followed by reprocessing of the data             generates a new diagnostic output and a revised             belief vector. This allows analysis of the importance             of any input variable to the proposed diagnosis. The             knowledge-based expert system also includes a section             entitled *Independent Metabolic Disease Reference             Documents*, which provides additional information             about a suspected metabolic disease when requested by             the user. The neural network component consists of             eight, three-layer neural networks that are trained             using a back-propagation approach. Analysis of the             hidden layers following training of the neural             network revealed both expected and novel, unexpected             connections between specific diagnoses and clusters             of amino acids. Such data may be used as a guide for             future investigation of the contribution of the             metabolism of specific amino acids to amino acid             disorders.               The program runs             under Windows 3.1 or Windows 95, and promises to be             useful both as a model for computer assisted             diagnosis of inborn errors and as a research tool.                             Additional...              MetaNet Screen             Shot.                            |