Summary
The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the presence of a catalytically-defective but immunologically-reactive enzyme. Our results support the conclusion that the propositus girl may represent the first case of compound heterozygosity for acute intermittent porphyria alleles.
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Picat, C., Delfau, M.H., de Rooij, F.W.M. et al. Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria. J Inherit Metab Dis 13, 684–686 (1990). https://doi.org/10.1007/BF01799567
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DOI: https://doi.org/10.1007/BF01799567