One year ago, Children's Hospital of Pittsburgh became the first and only transplant center in the world to develop a comprehensive, multidisciplinary medical protocol for performing liver ...

INDIANAPOLIS — With Rare Disease Day approaching, an Indiana family is bringing awareness to their daughter’s uncommon condition. FOX59 in Indianapolis recently told the story of a 4-month-old girl ...

Hannah Dolins has maple syrup urine disease and needs a metabolic formula to live. Without her formula, she can fall into a coma and die. This is her story, as told to Heather Marcoux. I'm 28 years ...

A study in human skin cells and mice shows the widely-used diabetes drug metformin reduces toxic acid levels in Maple Syrup Urine Disease. The discovery offers the possibility of a new treatment for a ...

MILPITAS, Calif.--(BUSINESS WIRE)--ASC Therapeutics, a privately-held biopharmaceutical company pioneering the development of transformative in-vivo gene replacement, gene editing and allogeneic cell ...

MILPITAS, Calif.--(BUSINESS WIRE)--Please replace the release dated May 16, 2022 with the following corrected version due to multiple revisions. The updated release ...

A one-time injection of a novel gene therapy was able to save mice and a newborn calf from succumbing to maple syrup urine disease (MSUD), suggesting the approach could one day be used to treat ...

Maple syrup urine disease (MSUD) is caused by an inherited deficiency of the branched-chain α-keto acid dehydrogenase, resulting in a marked increase of the branched-chain amino acids (BCAAs), leucine ...