Inherited deficiency of delta-aminolevulinic acid dehydratase.
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.
D000293:Adolescent; D005260:Female; D005799:Genes, Dominant; D005809:Genes, Regulator; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011162:Porphobilinogen / Q000378:metabolism; D000623:Porphobilinogen Synthase / Q000172:deficiency* / Q000235:genetics; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics
D011162:Porphobilinogen; D000623:Porphobilinogen Synthase