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Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.
|Title||Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Kong X-F, Han Y, Li X-H, Gao D-Y, Zhang X-X, Gong Q-M|
|Date Published||2013 Jul 25|
We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A→G) of the porphobilinogen (PBG) deaminase gene (PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls.