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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1979 Nov;31(6):662–668.

Inherited deficiency of delta-aminolevulinic acid dehydratase.

T D Bird, P Hamernyik, J Y Nutter, R F Labbe
PMCID: PMC1686033  PMID: 517518

Abstract

Delta-aminolevulinic acid dehydratase (ALA-D) is the second enzyme in the porphyrin-heme pathway and converts delta-aminolevulinc acid (ALA) to porphobilinogen (PBG). A family is reported with an inherited deficiency of red cell ALA-D activity occurring over three generations in an autosomal dominant pattern. Intial experiments support the hypothesis that the mutation in this family may affect a regulatory gene, but enzyme purification and further study are required. Although no clinical manifestations of deficient ALA-D activity have been found in affected persons, families such as this may be at increased risk for the serious consequences of lead poisoning, which produces marked inhibition of ALA-D activity.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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