Abstract

Homocystinuria was studied in 27 patients from 15 families in New South Wales. All 2 had biochemical findings consistent with cystathionine synthetase deficiency. One patient was ascertained by newborn screening, but the remaining index cases were detected because of symptoms: poor eyesight 6, mental retardation 3, thromboses 2, skeletal abnormalities 2, and urinary infection1. 9 patients, one-third of all cases, were mildly affected: either they had no features of the disease, or these did not occur until the late teens. Pyridoxine responsiveness was found in 8 sibships, and clinically there were two distinct kinds of response. For patients born in the decade 1960-69 the ascertainment rate for the total population was 1:58 000. The true incidence must be much higher. Our series indicates that homocystinuria occurs more frequently than has heretofore been thought, and that mild cases are common. It is likely that cases are often missed in current newborn screening programmes.