RESUMO
Four patients with hypermethioninemia were ascertained in neonatal mass metabolic screening programs. Hypermethioninemia has persisted in all cases. There were no other abnormalities in sulfur-amino acid concentrations, and routine serum chemical determinations, including the results of "liver function" tests, were normal. Hepatic methionine adenosyltransferase activity was found to be low, ranging from 7.8 to 17.5% (mean 11.4%) of the normal adult control value. Electron microscopy of liver showed increased smooth endoplasmic reticulum, decreased rough endoplasmic reticulum, and increased lysosomes; short breaks in the outer membranes of mitochondria were present to a variable extent. Despite the persistent hypermethioninemia, which argues for continued deficiency of hepatic MAT, all four children appear well. This ostensible well being may be a result of the normal activity of extrahepatic MATs, as shown for erythrocytes and for cultured fibroblasts and lymphoid cells.