Prenatal diagnosis and a case report of isovaleric acidaemia

Abstract

Once considered a frontier' procedure, prenatal diagnosis via amniocentesis, fibroblast cultures and enzyme activity determinations are now regularly done in some centres. Where potentially lethal inherited disorders have previously been recognized in a family the availability of prenatal diagnosis now allows options where before there were none. This report presents a previously undescribed patient with isovaleric acidaemia and a procedure developed for prenatal diagnosis of his sibling. Isovaleric acid accumulates as a consequence of decreased activity of the dehydrogenase enzyme involved in the metabolism of L-leucine (Figure 1). Defects in the metabolism of L-leucine have been recognized at almost every step in its degradation. L-LEUCINE