3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

@article{Moses20053Hydroxy3methylglutarylcoenzymeAL,
  title={3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency},
  author={Shimon W. Moses and Michael Y Aviram and Ralf Geiger and R. G. Berger and Pieter Casper Smit},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={12},
  pages={341-342}
}
3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency (McKusick 24656) is a rare autosomal recessively inherited inborn error of metabolism. Since the first patient was described (Faull et al., 1976), over 20 additional cases have been reported. Clinically some patients present with a severe metabolic acidosis in the neonatal period, while others… CONTINUE READING