HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

@article{Mitchell1998HMGCL,
  title={HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.},
  author={Grant A. Mitchell and Pinar T. Ozand and Marie F Robert and Lyudmila Ashmarina and Jenna C Roberts and Kathleen M Gibson and Ronald J. A. Wanders and S Wang and Isabelle Chevalier and Engelbert Pl{\"o}chl and Henry M. Miziorko},
  journal={American journal of human genetics},
  year={1998},
  volume={62 2},
  pages={295-300}
}
The hereditary deficiency of 3-hydroxy-3-methylglutaryl (HMG) CoA lyase (HL; OMIM 246450 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?246450]) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia. We found genetic diversity among nine Saudi HL-deficient probands: six were homozygous for the missense mutation R41Q, and two were homozygous for the frameshift mutation F305fs(-2). In 32 non-Saudi HL-deficient… CONTINUE READING