- Beitritt
- 08.02.12
- Beiträge
- 687
Aus deinem SCRIBD-Yasko Link: AUCH S.640!!! Sorry OCR-Probleme:
High-dose vitamin therapy stimulates variant enzymes with
decreased coenzyme binding affinity (increased Km): relevance
to genetic disease and polymorphisms 1-3
S.646:
High-dose vitamin therapy stimulates variant enzymes with
decreased coenzyme binding affinity (increased Km): relevance
to genetic disease and polymorphisms 1-3
S.646:
S-ADENOSYLMETHIONINE
No ORI has been set for S-adenosylmc1hionine.
Guanidinoacetatc N-methyltransfcrase
S- J\denosylmethionine, a common methy l donor, is used
hy guanidi noacctalc N-methyltransferasc (see OMIM 601240),
which catalyzes the last step in creatine synthesis, the
methylation of guani doace1ate to creatine. Guanidinoacetate
N-mclhyltranslerase deficiency is a rare inborn error of metabol
ism that leads to creatine deficiency. Crea1ine administrat ion,
which bypasses the metabolic defect, alleviates symptoms of
guanidinoacc1a1e N-melhyllransfcrase deficiency (357). Because
the concentration of guanidoacc1a1e, which has neurotoxic effects,
remains high after crealine supplcmcnlalion, S-adcnosylmethionine
administrat ion could be of additional benefit. It would also be
useful to elucidate the primary defect of the guanidinoacctate
N-mclhyltransferase protein.