Premium
A clinical biochemist's view of the investigation of suspected inherited metabolic disease
Author(s) -
Blom W.,
Huijmans J. G. M.,
Berg G. B.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799287
Subject(s) - biochemist , metabolic disease , disease , intensive care medicine , geneticist , medicine , selection (genetic algorithm) , medical physics , biology , pathology , computer science , genetics , engineering , biochemical engineering , artificial intelligence
Summary The necessity for a multi‐disciplinary approach to the study of genetic disease is discussed. The progress of laboratory investigation programmes made it not feasible and inefficient to run a full metabolic investigation programme in every new patient suspected of inherited metabolic disease. An application form for metabolic investigation is described, which can be used to collect clinical information relevant to metabolic disease. On the basis of the patient's clinical information, selection criteria are given to decide which laboratory investigation programme has to be performed in the individual patient. A full metabolic laboratory investigation programme is described and illustrated with some examples of abnormal metabolite patterns. Diagnostic results over a 2‐year period are presented.