Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.

TitleRecurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.
Publication TypeJournal Article
Year of Publication2013
AuthorsKong X-F, Han Y, Li X-H, Gao D-Y, Zhang X-X, Gong Q-M
JournalGene
Volume524
Issue2
Pagination401-2
Date Published2013 Jul 25
Abstract

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.

DOI10.1371/journal.pone.0081430
Alternate JournalGene