Aldolase activity in the plasma or serum of normal children and families with muscular dystrophy.

Aldolase catalyses the reversible splitting of fructose 1 :6-diphosphateto glyceraldehyde-3-phosphate and dihydroxy-acetone phosphate. Diagnostically it is of value in distinguishing primary muscular disease from neurogenic muscular atrophy. Most investigators agree that levels are higher in normal children, especially the newly born, than in normal adults and that there is no sex difference (Schapira, Dreyfus, Schapira and Kruh, 1955; Evans and Baker, 1957; Soltan and Blanchaer, 1959; Pojerova and Tovarek, 1959). However, Sibley and Fleisher (1954) found no variation with age, and Friedman and Lapan (1958) found higher levels in men than in women. The determination is of value in the diagnosis of muscular dystrophy, and in the detection of this condition in children not yet affected clinically. Since the level is raised in affected children, the possibility of using this estimation to detect heterozygous carriers of genes responsible for the various forms of the disease has been considered. Results reported in the literature have been conflicting. Soltan and Blanchaer (1959) found no raised levels in 12 mothers and 11 sisters of patients with Duchenne type muscular dystrophy, but do not distinguish those who were known to be heterozygotes. Chung, Morton and Peters (1960) observed raised aldolase levels (at the 5% level of significance) on a single estimate in a small proportion, three of 21, of known heterozygotes for the Duchenne type muscular dystrophy, but in only one of 19 heterozygotes for the gene for the 'limb-girdle' type. Schapira, Dreyfus, Schapira and Demos (1960) found raised levels in seven of 18 known carriers of Duchenne type dystrophy. Leyburn, Thomson and Walton (1961) found no raised levels in any of six known carriers of Duchenne type dystrophy. In the present investigation, aldolase levels have been determined in an extensive series of normal children and in some adults. This was an essential preliminary to a study undertaken to see whether carriers could be detected.