Title: Research Communications of the 24th ECVIM-CA Congress Document date: 2015_1_10
ID: r59usk02_139
Snippet: Urinary d-aminolevulinic acid, porphobilinogen, uroporphyrin I, and coproporphyrin I concentrations were increased in the cat studied, suggesting an acute intermittent porphyria (AIP). The erythrocytic hydroxymethylbilane synthase (HMBS) activity in erythrocytes was approximately half normal suggesting a dominant enzymopathy, while the erythrocyte uroporphyrinogen IIIsynthase activity was normal. Sequencing the feline HMBS gene revealed a heteroz.....
Document: Urinary d-aminolevulinic acid, porphobilinogen, uroporphyrin I, and coproporphyrin I concentrations were increased in the cat studied, suggesting an acute intermittent porphyria (AIP). The erythrocytic hydroxymethylbilane synthase (HMBS) activity in erythrocytes was approximately half normal suggesting a dominant enzymopathy, while the erythrocyte uroporphyrinogen IIIsynthase activity was normal. Sequencing the feline HMBS gene revealed a heterozygous intronic 12 base deletion (c.772-13_-2del) which results in an insertion in the mRNA and would predict a truncated protein.
Search related documents:
Co phrase search for related documents- acute intermittent porphyria and intermittent porphyria: 1, 2
- HMBS gene and hydroxymethylbilane synthase: 1, 2
- HMBS gene and intermittent porphyria: 1
Co phrase search for related documents, hyperlinks ordered by date