HOMOCYSTEINE IN HEALTH AND DISEASE

Abstract

HOMOCYSTEINE IN HEALTH AND DISEASE. Edited by Ralph Carmel and Donald Jacobsen . 2000. Cambridge: Cambridge University Press. Price £100. Pp. 526. ISBN 0‐521‐65319‐3. This multi‐authored book presents 46 chapters written by more than 50 experts in the area of homocysteine research, who describe historical aspects, current opinion and future perspectives of homocysteine in health and disease. Homocysteine is a sulphur‐containing amino acid that was first discovered in 1932 and was identified as a product of the essential amino acid, methionine. Its clinical significance remained unknown until 1962, when homocysteine was found to be grossly elevated in the urine of children with learning disabilities. Other clinical features were seizures, lens dislocation, skeletal deformities and premature vascular disease. These children had an inborn error of metabolism in the homocysteine‐metabolising enzyme cystathionine β‐synthase and, since this initial discovery, several other even rarer metabolic defects of methionine metabolism have been identified that also cause homocystinuria. In these patients, vascular disease is the major cause of morbidity, but all are also associated with abnormalities of the central nervous system. The frequency of these inborn errors is low (∼1 : 200 000), but their study has led to evidence that less severe elevations in homocysteine, which may occur with vitamin deficiency or even in …