Expression Clinique Et Biochimique Des Aladies Héréditaires Du Métabolisme

Abstract

Summary There are more than 300 hereditary inborn errors of metabolism most frequently inherited in an autosomal recessive fashion, and usually due to an enzymatic defect. Expressivity is variable and heterogeneous from the genetic as well as biochemical and clinical points of view. Clinical signs may occur early or be delayed and are a consequence of the accumulation of metabolites resulting from enzymatic block and/or deficiencies of the end-product. When the accumulating substrates are insoluble, they accumulate in the tissues thus resulting in overloading. Some of these disorders can be treated by diet, for instance, phenylketonuria. If the enzymatic system involved is present in fibroblasts, early antenatal diagnosis may be possible.