A novel mutation of δ‐aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity

@article{Akagi1999ANM,
  title={A novel mutation of $\delta$‐aminolaevulinate dehydratase in a healthy child with 12\% erythrocyte enzyme activity},
  author={Reiko Akagi and Yumiko Yasui and Pauline Harper and Shigeru Sassa},
  journal={British Journal of Haematology},
  year={1999},
  volume={106}
}
Cloning, expression and phenotype studies of the defective gene for δ‐aminolaevulinate dehydratase (ALAD) in a family with an asymptomatic girl who had ALAD deficiency were carried out. The proband was identified by neonatal ALAD screening, and had erythrocyte ALAD activity at 12% of the normal control. She was heterozygous for ALAD deficiency, which was inherited from her father. Nucleotide sequence analysis of the cloned ALAD cDNA revealed C36 to G and T168 to C mutations on the same allele… Expand
Novel molecular defects of the δ‐aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria
TLDR
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Heme biosynthesis and the porphyrias.
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  • Medicine
  • Molecular genetics and metabolism
  • 2019
TLDR
This overview does not describe the full clinical spectrum of the porphyrias, but is meant to be an overview of the biochemical steps that are required to make heme in both erythroid and non-erythyroid cells. Expand
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