delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.

@article{Akagi2006deltaAminolevulinateD,
  title={delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.},
  author={Reiko Akagi and Noriko Kato and Rikako Inoue and Karl Elmo Anderson and Eileen K. Jaffe and Shigeru Sassa},
  journal={Molecular genetics and metabolism},
  year={2006},
  volume={87 4},
  pages={329-36}
}
The molecular basis of the enzymatic defect responsible for delta-aminolevulinate dehydratase (ALAD) porphyria (ADP) was investigated in a 14-year-old male who presented clinical and laboratory findings typical of ADP. Nucleotide sequence analysis of ALAD cDNAs from the proband revealed two novel mutations, a 265G to A base transition (C1) and a 394C to T base transition (C2), resulting in amino acid substitutions, Glu89Lys and Cys132Arg, respectively. Both mutations were present within exon 5… CONTINUE READING