Title : Mutations in acute intermittent porphyria detected by ELISA measurement of porphobilinogen deaminase.

Pub. Date : 1989 Nov

PMID : 2607315






3 Functional Relationships(s)
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1 Porphobilinogen deaminase concentration (micrograms/gHb) was quantified using a recently developed double-sandwich ELISA. 4-hydroxybutyric acid hydroxymethylbilane synthase Homo sapiens
2 The majority (91%) of gene carriers, from 25 families, had a diminished porphobilinogen deaminase concentration of 102 +/- 18 micrograms/gHb, with a slightly lowered specific activity of 634 +/- 105 nkat/g. 4-hydroxybutyric acid hydroxymethylbilane synthase Homo sapiens
3 In 9% of the gene carriers, representing six different families, an increase in porphobilinogen deaminase concentration to 269 +/- 46 micrograms/gHb, and a highly significant reduction in specific activity to 234 +/- 48 nkat/g, were found, which indicates the presence of a different mutation. 4-hydroxybutyric acid hydroxymethylbilane synthase Homo sapiens