S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man

@article{Buist2006SAdenosylhomocysteineHD,
  title={S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man},
  author={NeilR. M. Buist and Bradley Glenn and Oliver Vugrek and Christophe Wagner and Sally Hamilton Stabler and R. D. Allen and Igor P Pogribny and Andreas Schulze and Steven H Zeisel and Ivo Bari{\'c} and SimonM. Mudd},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={538-545}
}
This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevated serum creatine kinase (CK) concentrations, and hypermethioninaemia. Although he has been followed from infancy, the basic enzyme deficiency was established only at age 26 years. The diagnosis was based on markedly elevated plasma concentrations… CONTINUE READING
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