1970 Volume 101 Issue 3 Pages 223-226
Free amino acid concentrations were determined in the liver biopsied or autopsied from the patients with amino acid disorder and from several controls. The results showed the accumulation of phenylalanine in phenylketonuria, of methionine and homocystine in homocystinuria, of cystathionine in cystathioninuria, of glycine in hyperglycinemia and of alanine in hyperalaninemia in the liver specimens biopsied from the patients with the respective disorders. Postmortem liver tissue from a patient with hyperglycinemia and a patient with homocystinuria also revealed an evident accumulation of glycine or homocystine. These findings suggest the significance of the postmortem diagnosis of inborn errors of amino acid metabolism.
