Vision of correction for classic homocystinuria.

Journal Article (Journal Article)

Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and many of these individuals do not respond to current treatment protocols. In this issue of the JCI, Bublil and colleagues demonstrate that enzyme replacement therapy (ERT) provides long-term amelioration of homocystinuria-associated phenotypes in CBS-deficient murine models. A PEGylated form of CBS provided long-term stability and, when used in conjunction with the methylation agent betaine, dramatically increased survival in mice fed a normal diet. The results of this study provide one of the first examples of ERT for a metabolic disorder and suggest that PEGylated CBS should be further explored for use in patients.

Full Text

Duke Authors

Cited Authors

  • Koeberl, DD

Published Date

  • June 1, 2016

Published In

Volume / Issue

  • 126 / 6

Start / End Page

  • 2043 - 2044

PubMed ID

  • 27183384

Pubmed Central ID

  • PMC4887184

Electronic International Standard Serial Number (EISSN)

  • 1558-8238

Digital Object Identifier (DOI)

  • 10.1172/JCI88251


  • eng

Conference Location

  • United States