[Aminoacid levels in Werding-Hoffmann and Kugelberg-Welander diseases (author's transl)]

The concentration of free aminoacids in plasma and urine were estimated in 10 patients suffering from Werdnig-Hoffmann's disease of long duration. The age of the patients was between 5 and 14 years. Estimations were also made in 10 patients with Kugelberg-Welander's disease aged between 11 and 34 years. The aminoacid concentrations were estimated on samples of plasma and 24 hours samples of urine by means of chromatography on ion-exchange resins. The data obtained were compared respectively with groups of thirty and ten healthy subjects of the same age. In the group of patients with Werdnig-Hoffmann's disease a significant increase of taurine (p less than 0.001) and of glutamic acid (p less than 0.001) was found in the plasma. The urinary excretion of glutamine was increased in the same group of patients (p less than 0.001) and in the group with Kugelberg-Welander's disease (p less than 0.005). These aminoacid levels are interpreted as an expression of a reduced oxygen metabolism and increased proteolysis in the skeletal muscles in conditions of chronic denervation.