Free amino acid pattern in the liver from the patients with amino acid disorders: postmortem diagnosis of inborn errors of amino acid metabolism.

TADA, K., Y OSHIDA, T. and ARAAAWA, Ts. Free Amino Acid Pattern in the Liver from the Patients with Amino Acid Disorders: Postmortem Diagnosis of Inborn Errors of Amino Acid Metabolism. Tohoku J. exp. Med., 1970, 101 (3), 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 cystathioni nuria, 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 homocysti nuria 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. amino acids in liver tissue; metabolic error.