PMID: 9164637Apr 1, 1997Paper

Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease)

Archives of Dermatological Research
A G FreesemannM Doss

Abstract

Various clinical and biochemical observations point to a relationship between degree of disease expression and metabolic disturbance in autosomal recessive congenital erythropoietic porphyria (Günther's disease). Although the clinical manifestations have been well described since Günther's fundamental observations, an interdependence between disease severity and porphyrin excess has yet to be elucidated. We investigated porphyrin metabolism in nine Indian patients suffering from the characteristic clinical symptoms: skin photosensitivity, red-colored urine as a sign of extremely elevated porphyrinuria and mild to severe hemolytic anemia. Porphyrins in urine, feces and blood were analysed by HPTLC and HPLC in conjunction with spectrophotometry and spectrofluorometry. Uroporphyrinogen III synthase activities in red blood cells were determined using a coupled-enzyme assay. Biochemical studies revealed varying degrees of porphyrinuria with total urinary porphyrins between 23 and 102 mumol/24 h (normal < 0.2 mumol/24 h) and uroporphyrin predominance. Urinary and fecal coproporphyrin isomer I were markedly elevated to 87-97% and 81-93% (normal < 31%, < 75%), respectively. Overproduction of porphyrins led to a considerable porphyrinem...Continue Reading

Citations

May 26, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·A KühnelM O Doss
Jun 13, 2002·British Journal of Haematology·Robert J Desnick, Kenneth H Astrin
Jan 18, 2005·Lancet·Raili Kauppinen
Feb 3, 2007·Blood Cells, Molecules & Diseases·Jordi To-FiguerasCarmen Herrero
Mar 13, 2016·British Journal of Haematology·Elena Di PierroFrancesca Granata
Aug 24, 1999·The Journal of Dermatology·M D OzallaJ M Mascaro
Jul 27, 1999·Medizinische Klinik·M O DossI Sieg
Dec 16, 2000·Journal of Inherited Metabolic Disease·U GrossM O Doss
Sep 21, 2018·Science Translational Medicine·Pedro UrquizaOscar Millet

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