A new type of hypermethioninemia in neonates.
Eleven hypermethioninemic patients were found by mass screening tests of neonates. Three of these had persistent hypermethioninemia while in the others it was transient. Serum concentrations of methionine were constantly higher than those of controls, especially in the persistent group. The enzyme activities of methionine adenosyltransferase in the liver tissues of both groups of patients were within normal limits. Serum concentrations of total folate in the persistent group were strikingly elevated and fatty degeneration of the liver tissues was a constant feature. It improved after several months under a low-methionine diet. The hypermethioninemia reported here is not associated with any clinical or biochemical finding reported previously.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000473:pathology; D003553:Cystine / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D008403:Mass Screening; D008715:Methionine / Q000097:blood*; D008716:Methionine Adenosyltransferase / Q000378:metabolism
D003553:Cystine; D008715:Methionine; D008716:Methionine Adenosyltransferase