S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

We report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor development was slow until his fifth month; thereafter, virtually absent until treatment was started. He had marked hypotonia with elevated serum creatine kinase and transami...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Barić, Ivo, Fumić, Ksenija, Glenn, Byron, Ćuk, Mario, Schulze, Andreas, Finkelstein, James D., James, S. Jill, Mejaški-Bošnjak, Vlatka, Pažanin, Leo, Pogribny, Igor P., Radoš, Marko, Sarnavka, Vladimir, Šćukanec-Špoljar, Mira, Allen, Robert H., Stabler, Sally, Uzelac, Lidija, Vugrek, Oliver, Wagner, Conrad, Zeisel, Steven, Mudd, S. Harvey
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2004
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC384724/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15024124/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0400658101
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