R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report

J Clin Gastroenterol. 2015 Mar;49(3):256-7. doi: 10.1097/MCG.0000000000000264.

Authors

Mei-Chuan Chen¹, Chen-Jung Chang, Yung-Hsiu Lu, Dau-Ming Niu, Horng-Yuan Lou, Chun-Chao Chang

Affiliation

¹ *Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University †Department of Internal Medicine, Division of Gastroenterology and Hepatology Taipei Medical University Hospital ‡Faculty of Medicine, School of Medicine National Yang Ming University §Department of Pediatrics, Taipei Veterans General Hospital ∥Institute of Clinical Medicine, School of Medicine, National Yang Ming University, Taipei, Taiwan.

PMID: 25389600
DOI: 10.1097/MCG.0000000000000264

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
DNA Mutational Analysis
Exons
Genetic Predisposition to Disease
Heterozygote
Humans
Hydroxymethylbilane Synthase / genetics*
Male
Mutation*
Pedigree
Phenotype
Porphyria, Acute Intermittent / complications
Porphyria, Acute Intermittent / diagnosis
Porphyria, Acute Intermittent / enzymology
Porphyria, Acute Intermittent / genetics*
Rhabdomyolysis / diagnosis
Rhabdomyolysis / enzymology
Rhabdomyolysis / genetics*
Risk Factors

Substances

Hydroxymethylbilane Synthase