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

Xiao Fei Kong, Yue Han, Xin Hua Li, De Yong Gao, Xin Xin Zhang, Qi Ming Gong

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)401-402
Number of pages2
JournalGene
Volume524
Issue number2
DOIs
StatePublished - Jul 25 2013
Externally publishedYes

Keywords

  • Acute intermittent porphyria
  • Porphobilinogen (PBG) deaminase

ASJC Scopus subject areas

  • Genetics

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