Dual porphyria with mutations in both the UROD and HMBS genes

Ann Clin Biochem 2006;43:80-82
doi:10.1258/000456306775141641
© 2006 Association for Clinical Biochemistry

 

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Case Reports


James R Harraway,
Christopher M Florkowski,
Christiaan Sies and
Peter M George


Molecular Pathology, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand;
Biochemistry Unit, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand;
Biochemistry Unit, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand;
Biochemistry Unit, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand

The porphyrias are a group of inborn or acquired disorders ofhaem synthesis that can result in neurovisceral or dermatologicalsymptoms. Diagnosis is usually made using a combination of clinicalpresentation and biochemical parameters. This case report describesa 25-year-old woman clinically presenting with a rash and thenfound to have elevated porphobilinogen concentrations in herurine. The initial presumptive diagnosis of variegate porphyriawas not supported by analysis of her plasma, urine and faeces,which suggested a combination of acute intermittent porphyriaand porphyria cutanea tarda. Sequencing of the hydroxymethylbilanesynthase and uroporphyrinogen decarboxylase genes confirmedthe relatively rare diagnosis of dual porphyria, and revealeda novel uroporphyrinogen decarboxylase mutation.


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