Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

@article{Aoki1995MolecularAO,
  title={Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.},
  author={Yuji Aoki and Yuusuke Suzuki and Osamu Sakamoto and Xue Li and Kazuhiro Takahashi and Akira Ohtake and Ryoichi Sakuta and Toshihiro Ohura and Shigeaki Miyabayashi and Kuniaki Narisawa},
  journal={Biochimica et biophysica acta},
  year={1995},
  volume={1272 3},
  pages={168-74}
}
Holocarboxylase synthetase (HCS) deficiency is an inherited disease of biotin metabolism characterized by a unique pattern of organic aciduria, metabolic acidosis, and skin lesions. By analysis of five patients in four unrelated families, two mutations were identified: a transition from T to C which causes an amino-acid substitution of proline for leucine at position 237 (L237P) and a single deletion of guanine (delG1067) followed by premature termination. One patient was homozygous for the… CONTINUE READING