Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
To assess the ability of patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine. The results clearly demonstrate that CBS-deficient patients develop elevations of these metabolites once a threshold near 350 micromol/L for the concurrent plasma methionine concentration is exceeded. The absence of elevated methionine transamination products previously reported among 16 CBS-deficient B6-responsive patients may now be attributed to the fact that in those patients the plasma methionine concentrations were below this threshold. The observed elevations of transamination products were similar to those observed among patients with isolated hypermethioninemia. Plasma homocyst(e)ine did not exert a consistent effect on transamination metabolites, and betaine appeared to effect transamination chiefly by its tendency to elevate methionine. Even during betaine administration, the transamination pathway does not appear to be a quantitatively major route for the disposal of methionine.
Tangerman
A
A
Department of Gastrointestinal and Liver Diseases, University Hospital Nijmegen, The Netherlands.
Wilcken
B
B
Levy
H L
HL
Boers
G H
GH
Mudd
S H
SH
D000293:Adolescent; D000328:Adult; D000368:Aged; D000586:Amination / Q000187:drug effects; D001622:Betaine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D005260:Female; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood* / Q000188:drug therapy / Q000652:urine; D006801:Humans; D007223:Infant; D008082:Lipotropic Agents / Q000627:therapeutic use; D008297:Male; D008715:Methionine / Q000097:blood* / Q000652:urine; D008875:Middle Aged; D000637:Transaminases / Q000378:metabolism
D008082:Lipotropic Agents; D006710:Homocysteine; D001622:Betaine; D008715:Methionine; D000637:Transaminases; D003541:Cystathionine beta-Synthase