delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

@article{Plewinska1991deltaAminolevulinateDD,
  title={delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.},
  author={M Plewinska and Stig Thunell and Lars Holmberg and James G. Wetmur and Robert J Desnick},
  journal={American journal of human genetics},
  year={1991},
  volume={49 1},
  pages={167-74}
}
delta-Aminolevulinate dehydratase deficient porphyria, a recently recognized inborn error of heme biosynthesis, results from the markedly deficient activity of the heme biosynthetic enzyme, delta-aminolevulinate dehydratase (ALA-D). The four homozygotes described to date with this disorder have remarkably distinct phenotypes, ranging from a severely affected infant with failure to thrive to an essentially asymptomatic 68-year-old male. To investigate the molecular nature of the lesions causing… CONTINUE READING