Familial Porphyria Cutanea Tarda: Hybridization Analysis of the Uroporphyrinogen Decarboxylase Locus

1988 ◽  
Vol 38 (5) ◽  
pp. 283-286 ◽  
Author(s):  
Joanna L. Hanseri ◽  
Peter O’Connell ◽  
Marc Romana ◽  
Paul-Henri Romeo ◽  
James P. Kushner
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Hybridization Analysis ◽  
Uroporphyrinogen Decarboxylase

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda

2021 ◽  
Vol 14 (10) ◽  
pp. e245160
Author(s):  
Sonali Prasad ◽  
Vidhata Vidhata ◽  
Subhash Prasad
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Clinical Manifestations ◽  
Ocular Involvement ◽  
Slit Lamp ◽  
Uroporphyrinogen Decarboxylase ◽  
Progressive Loss ◽  
The Right ◽  
Lost To Follow Up ◽  
Test Serum

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda

1994 ◽  
Vol 40 (10) ◽  
pp. 1884-1889 ◽  
Author(s):  
J F McManus ◽  
C G Begley ◽  
S Ratnaike
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Uroporphyrinogen Decarboxylase ◽  
Consensus Sequences ◽  
Normal Individuals ◽  
Intron 1 ◽  
Donor And Acceptor ◽  
Multiple Alternative

Abstract We describe multiple alternative transcripts of uroporphyrinogen decarboxylase mRNA in normal individuals and patients with familial porphyria cutanea tarda. mRNA was reverse-transcribed, subjected to the polymerase chain reaction, and analyzed for nucleotide sequence. Seven different transcripts were characterized, and a cryptic splice acceptor site was identified in intron 1. In all mRNAs the exons abutted at previously defined exon boundaries. Characterization of the splice junctions in the genomic DNA showed that splice donor and acceptor sequences complied with the consensus sequences for these sites except for the splice acceptor sequences of exons 3 and 10. THese deviations were present in two normal individuals and one patient with familial porphyria cutanea tarda and were thus unable to explain the multiple aberrant uroporphyrinogen decarboxylase transcripts. We conclude that apparent deletions observed in transcripts derived from the uroporphyrinogen decarboxylase gene in patients with familial porphyria cutanea tarda should be interpreted with caution.

A Retrospective Review of the Management of Patients with Porphyria Cutanea Tarda At a Tertiary Care Centre

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5290-5290
Author(s):  
Jovana Yudin ◽  
Farzana R. Bacchus ◽  
Mark A. Crowther
Keyword(s):  
Clinical Remission ◽  
Conflicts Of Interest ◽  
Porphyria Cutanea Tarda ◽  
Tertiary Care ◽  
Sun Exposure ◽  
Tertiary Care Centre ◽  
Uroporphyrinogen Decarboxylase ◽  
Skin Symptom ◽  
Skin Fragility ◽  
Biochemical Remission

Abstract 5290 Porphyria Cutanea Tarda (PCT) is caused by a deficiency in uroporphyrinogen decarboxylase, an enzyme in the heme biosynthesic pathway. This leads to an excess of porphyrins, which cause blistering and skin fragility on sun exposure. The goals of treatment are iron depletion and reduction of plasma porphyrins to ameliorate skin symptoms. We reviewed the management of all PCT patients at St. Joseph's Hospital followed by the Hematology service, with the objective of describing their treatment course and its efficacy. The type of treatment received as well as the number and volume of phlebotomies were recorded. Outcomes of interest were skin symptom resolution (clinical remission) and biochemical remission, as measured by serum ferritin. Target ferritin was set at 30–50 μg/L. A total of 18 patients with PCT met our inclusion criteria; 14 males and 4 females. Three patients had the familial subtype of PCT while 15 had the sporadic form. Precipitants included alcohol, hepatitis C, hemochromatosis and estrogens. All patients received phlebotomy and three received hydroxychloroquine. Most patients were referred and initially diagnosed by dermatologists. The total volume of phlebotomies per patient ranged from 750–9500 mL for resolution of cutaneous symptoms which was achieved in 75% of patients. At the end of the study period, 15/18 (83%) patients were in clinical remission and 12/18 (67%) were in biochemical remission. Follow-up of PCT patients by a hospital hematology service allows for symptomatic control and biochemical remission in the vast majority of patients through the use of phlebotomy and occasionally hydroxychloroquine. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Modified uroporphyrinogen decarboxylase activity in a yeast mutant which mimics porphyria cutanea tarda

1984 ◽  
Vol 218 (2) ◽  
pp. 405-413 ◽  
Author(s):  
J Rytka ◽  
T Bilinski ◽  
R Labbe-Bois
Keyword(s):  
Biochemical Analysis ◽  
Porphyria Cutanea Tarda ◽  
Fold Increase ◽  
Recessive Mutation ◽  
Decarboxylase Activity ◽  
Cell Free Extract ◽  
Yeast Mutant ◽  
Uroporphyrinogen Decarboxylase ◽  
Yeast Saccharomyces Cerevisiae ◽  
Biochemical Characteristics

The isolation of a new mutant Sm1 strain of yeast, Saccharomyces cerevisiae, is described: this strain was partially defective in haem formation and accumulated large amounts of Zn-porphyrins. Genetic analysis showed that the porphyrin accumulation was under the control of a single nuclear recessive mutation. Biochemical analysis showed that the main porphyrins accumulated in the cells were uroporphyrin and heptacarboxyporphyrin, mostly of the isomer-III type. The excreted porphyrins comprised mainly dehydroisocoproporphyrin. Analysis of uroporphyrinogen decarboxylase activity in the cell-free extract revealed a 70-80% decrease of activity in the mutant and showed that the relative rates of the different decarboxylation steps were modified with the mutant enzyme. A 2-3-fold increase in 5-aminolaevulinate synthase activity was measured in the mutant. The biochemical characteristics of the Sm1 mutant are very similar to those described for porphyria cutanea tarda.

scholarly journals Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: The influence of virus C infection

Hepatology ◽  
1998 ◽  
Vol 27 (2) ◽  
pp. 584-589 ◽  
Author(s):  
Maria Jose Moran ◽  
Antonio Fontanellas ◽  
Eric Brudieux ◽  
Isabelle Hombrados ◽  
Victor de Ledinghen ◽  
...  
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Decarboxylase Activity ◽  
Uroporphyrinogen Decarboxylase ◽  
Virus C

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Dermatology ◽  
2009 ◽  
Vol 218 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Bernard Cribier ◽  
Christine Chiaverini ◽  
Nassim Dali-Youcef ◽  
Michèle Schmitt ◽  
Michèle Grima ◽  
...  
Keyword(s):  
Hepatitis C ◽  
Porphyria Cutanea Tarda ◽  
Hfe Gene ◽  
Uroporphyrinogen Decarboxylase

Identification of Two Types of Porphyria Cutanea Tarda by Measurement of Erythrocyte Uroporphyrinogen Decarboxylase

1980 ◽  
Vol 58 (6) ◽  
pp. 477-484 ◽  
Author(s):  
G. H. Elder ◽  
Diane M. Sheppard ◽  
R. E. De Salamanca ◽  
A. Olmos
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Porphyria Cutanea Tarda ◽  
Dominant Gene ◽  
Decarboxylase Activity ◽  
Hepatic Enzyme ◽  
Uroporphyrinogen Decarboxylase ◽  
History Of ◽  
The Common ◽  
Dominant Characteristic

1. Erythrocyte uroporphyrinogen decarboxylase activity has been measured in 27 patients with porphyria cutanea tarda, of whom 11 had a family history of overt porphyria cutanea tarda. 2. Eight patients from six families had erythrocyte uroporphyrinogen decarboxylase activities that were decreased to about half of control values. This decrease was shown by family studies to be inherited as an autosomal dominant characteristic. Two of these patients had no family history of overt porphyria cutanea tarda. 3. Nineteen patients had uroporphyrinogen decarboxylase activities close to or within the range found in 18 control subjects. Of these, five patients had a family history of porphyria cutanea tarda. 4. Inheritance of an autosomal dominant gene which decreases uroporphyrinogen decarboxylase activity in erythrocytes and liver is an uncommon cause of porphyria cutanea tarda and may not explain all cases of familial porphyria cutanea tarda. The hepatic enzyme defect in the common type of porphyria cutanea tarda, in which erythrocyte uroporphyrinogen decarboxylase activity is normal, may be caused either by inheritance of a gene whose effect is restricted to the liver or by chemicals that selectively inhibit the hepatic enzyme.

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