Genética Humana e Embriologia

In The Twenty-First Century, Clinical Biochemical Genetics

Abstract

Tim David

Genetic diseases are becoming more widely recognised in paediatrics. Close to 10% of diseases in hospitalised children have been linked to Mendelian traits inherited as single gene defects, which is not surprising given that approximately 1000 inborn errors of metabolism (IEM) have been discovered to date, primarily through the detection of abnormally accumulated endogenous metabolites in biological fluids and tissues. Clinical biochemical genetics is a laboratory discipline that deals with the evaluation and diagnosis of patients and families with inherited metabolic disease, as well as the monitoring of treatment and the differentiation of heterozygous carriers from non-carriers using metabolite and enzymic analysis of physiological fluids and tissues. The biochemical genetics lab is not the same as the clinical chemistry lab.