Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

SP Stabler, C Steegborn, MC Wahl… - Metabolism …, 2002 - metabolismjournal.com
Abnormal elevation of plasma methionine may result from several different genetic
abnormalities, including deficiency of cystathionine [beta]-synthase (CBS) or of the
isoenzymes of methionine adenosyltransferase (MAT) I and III expressed solely in nonfetal
liver (MAT I/III deficiency). Classically, these conditions have been distinguished most
readily by the presence or absence, respectively, of elevated plasma free homocystine,
detected by amino acid chromatography in the former condition, but absent in the latter …