Homocystinuria

Abstract

IN NOVEMBER, 1962, a family with an unusual neurological disorder was encountered. When the urinary excretion of amino acids was studied in January 1963, a unique pattern was seen and we thought we were dealing with a new syndrome. It soon became apparent that the same disorder had been described by Carson and Neill,⁵ and Gerritsen et al¹¹ during the preceding months. These authors, together with Cusworth, Dent, Field and Westall^3,7 had identified the abnormal compound as homocystine. Since then about 20 cases have been discovered^{1,3,7,12,16,18,23} and the biochemical abnormality has been identified as a deficiency of cystathionine synthetase.²³ The family to be described here illustrates the typical features of the disease. Biochemical and neuropathological studies were carried out in two of three affected individuals (cases 2 and 3), and some neuropathological data were available in the third (case 1).