title: Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.
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.
authors: Clinical Virological Research Unit, Department of Infectious Disease, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China.
authors: Xiao-Fei
authors: XF
authors: Kong
authors: Yue
authors: Y
authors: Han
authors: Xin-Hua
authors: XH
authors: Li
authors: De-Yong
authors: DY
authors: Gao
authors: Xin-Xin
authors: XX
authors: Zhang
authors: Qi-Ming
authors: QM
authors: Gong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D006973:Hypertension / Q000473:pathology; D007438:Introns; D007676:Kidney Failure, Chronic / Q000473:pathology; D009154:Mutation; D000623:Porphobilinogen Synthase / Q000652:urine; D017118:Porphyria, Acute Intermittent / Q000235:genetics* / Q000473:pathology; D012326:RNA Splicing; D012008:Recurrence
chemical_list: D011163:Hydroxymethylbilane Synthase; D000623:Porphobilinogen Synthase