Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

  title={Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.},
  author={F. J. Loupatty and A. van der Steen and L. Ijlst and J. Ruiter and R. Ofman and M. Baumgartner and D. Ballhausen and S. Yamaguchi and M. Duran and R. Wanders},
  journal={Molecular genetics and metabolism},
  volume={87 3},
  • F. J. Loupatty, A. van der Steen, +7 authors R. Wanders
  • Published 2006
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of patients. Here, we present two novel patients with 3-hydroxyisobutyric aciduria. To our knowledge, these are the 11th and 12th cases of 3-hydroxyisobutyic aciduria reported. It is believed that a deficiency in 3-hydroxyisobutyrate dehydrogenase is the most likely cause of this disorder. Measurement of 3… CONTINUE READING
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