Amounts of Faecal Porphyrin-Peptide Conjugates in the Porphyrias

1972 ◽  
Vol 43 (2) ◽  
pp. 299-302 ◽  
Author(s):  
M. R. Moore ◽  
G. G. Thompson ◽  
A. Goldberg
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Normal Subjects ◽  
Erythropoietic Protoporphyria ◽  
Peptide Conjugates ◽  
Peptide Complex ◽  
Variegate Porphyria ◽  
Hereditary Coproporphyria ◽  
Different Types

1. The levels of ‘X-porphyrin’, a porphyrin-peptide complex, have been studied in the faeces of patients with different types of porphyria, as well as in fifty normal subjects. 2. These levels have been shown to be significantly elevated in untreated porphyria cutanea tarda and in variegate porphyria. 3. Lesser elevations were seen in acute intermittent porphyria and hereditary coproporphyria. There was no elevation in erythropoietic protoporphyria.

scholarly journals Plasma Porphyrins in the Porphyrias

1999 ◽  
Vol 45 (7) ◽  
pp. 1070-1076 ◽  
Author(s):  
J Thomas Hindmarsh ◽  
Linda Oliveras ◽  
Donald C Greenway
Keyword(s):  
Renal Failure ◽  
Healthy Subjects ◽  
Porphyria Cutanea Tarda ◽  
Plasma Concentrations ◽  
Acute Intermittent Porphyria ◽  
Fluorometric Detection ◽  
Erythropoietic Protoporphyria ◽  
Clinical Sensitivity ◽  
Hereditary Coproporphyria ◽  
Coproporphyrin I

Abstract Background: As an aid in the diagnosis and management of porphyria we have developed a method to fractionate and quantify plasma porphyrins and have evaluated its use in various porphyrias. Methods: We used HPLC with fluorometric detection to measure plasma concentrations of uroporphyrin I and III, heptacarboxyl III, hexacarboxyl III, pentacarboxyl III, and coproporphyrin I and III. We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with renal failure, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with hereditary coproporphyria, and 4 patients with erythropoietic protoporphyria. Results: Between-run CVs were 5.4–13%. The recoveries of porphyrins added to plasma were 71–114% except for protoporphyrin, which could not be reliably measured with this technique. Plasma porphyrin patterns clearly identified PCT, and its clinical sensitivity equaled that of urine porphyrin fractionation. The patterns also allowed differentiation of PCT of renal failure from pseudoporphyria of renal failure. Conclusions: The assay of plasma porphyrins identifies patients with PCT and appears particularly useful for differentiating PCT of renal failure from pseudoporphyria of renal failure.

Alterations in the Activity of Enzymes of Haem Biosynthesis in Lead Poisoning and Acute Hepatic Porphyria

1977 ◽  
Vol 53 (4) ◽  
pp. 335-340
Author(s):  
B. C. Campbell ◽  
M. J. Brodie ◽  
G. G. Thompson ◽  
P. A. Meredith ◽  
M. R. Moore ◽  
...  
Keyword(s):  
Lead Poisoning ◽  
Haemoglobin Concentration ◽  
Acute Intermittent Porphyria ◽  
Normal Subjects ◽  
Uroporphyrinogen Decarboxylase ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria ◽  
Haem Biosynthesis ◽  
Significant Depression ◽  
Activity Of Enzymes

1. The activities of six of the enzymes of haem biosynthesis have been assayed in peripheral blood from patients with lead poisoning, acute intermittent porphyria or hereditary coproporphyria. 2. Compared with normal subjects the lead-poisoned subjects had highly significant depression of δ-aminolaevulinate dehydratase, coproporphyrinogen oxidase and ferrochelatase. 3. Lead-poisoned subjects had highly significant elevation of δ-aminolaevulinate synthase activity. 4. δ-Aminolaevulinate synthase activity was inversely related to the haemoglobin concentration. 5. Increased δ-aminolaevulinate synthase and decreased δ-aminolaevulinate dehydratase activity are also found in acute intermittent porphyria. 6. Increased δ-aminolaevulinate synthase, normal porphobilinogen deaminase and uroporphyrinogen decarboxylase and decreased coproporphyrinogen oxidase are found in both lead poisoning and hereditary Coproporphyria. 7. These enzyme changes explain the recognized patterns of porphyrins and porphyrin precursors in blood and urine in these conditions.

The Heptacarboxylic Porphyrin of Various Types of Porphyria and the Melting-Point Curve of Methyl Esters of the I and III Isomers

1966 ◽  
Vol 12 (10) ◽  
pp. 647-658 ◽  
Author(s):  
T C Chu ◽  
Edith Ju-Hwa Chu
Keyword(s):  
Melting Point ◽  
South African ◽  
Porphyria Cutanea Tarda ◽  
Methyl Esters ◽  
Acute Intermittent Porphyria ◽  
Type I ◽  
X Ray Diffraction ◽  
Different Types ◽  
Composition Curve ◽  
Point Composition

Abstract The heptacarboxylic porphyrin (hepta) isolated from different types of porphyric urine samples contains different proportions of the isomers I and III. These were separated chromatographically. The hepta in congenital porphyria was found to contain 65% of Type I isomer and 35% of Type III; that in acute intermittent porphyria, 70-80% III and 20-30% I; and that in porphyria cutanea tarda, 80-90% III. Several other cases including 1 of coproporphyria, 1 of South African genetic porphyria, 1 of Bantu porphyria, 4 of hexachlorobenzene poisoning in Turkish individuals were also examined. From the X-ray diffraction pattern and long-column chromatography, the Hepta III prepared either from decarboxylation of Uroporphyrin III or by condensation of porphobilinogen revealed a more complex configuration than that isolated from porphyric materials. The natural hepta might be dominated by one of the four possible isomers of the III series. A melting-point composition curve of methyl esters of Hepta I and III was constructed, and its applicability was tested. The identity of the hepta isolated in porphyria cutanea tarda with "208" and "pseudouro" porphyrins is discussed, and the name "cutano-porphyrin" suggested.

Metabolic Disease

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Metabolic Disorders ◽  
Porphyria Cutanea Tarda ◽  
Hunter Syndrome ◽  
Acrodermatitis Enteropathica ◽  
Erythropoietic Protoporphyria ◽  
Prolidase Deficiency ◽  
Treatment Mode ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Metabolic Disease

2012 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Metabolic Disease ◽  
Metabolic Disorders ◽  
Porphyria Cutanea Tarda ◽  
Hunter Syndrome ◽  
Biotinidase Deficiency ◽  
Acrodermatitis Enteropathica ◽  
Erythropoietic Protoporphyria ◽  
Prolidase Deficiency ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

Porphyrias – Congenital Erythropoietic Porphyria – Erythropoietic Protoporphyria – Hereditary Coproporphyria – Porphyria Cutanea Tarda – Variegate Porphyria – Mucopolysaccharidoses – Hunter Syndrome – Other Metabolic Disorders – Acrodermatitis Enteropathica – Alkaptonuria – Biotinidase Deficiency – Familial Cutaneous Amyloidosis – Prolidase Deficiency

The Porphyrias

2016 ◽  
Author(s):  
Karl E Anderson ◽  
Attallah Kappas
Keyword(s):  
Biosynthetic Pathway ◽  
Aminolevulinic Acid ◽  
Clinical Symptoms ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Genetic Traits ◽  
Molecular Defects ◽  
Clinical Presentations ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

The porphyrias are uncommon disorders caused by deficiencies in the activities of enzymes of the heme biosynthetic pathway. The enzymatic defects that cause porphyrias are inherited, with the exception of porphyria cutanea tarda, which is primarily acquired. In all porphyrias, there is significant interplay between genetic traits and acquired or environmental factors in the expression of clinical symptoms. This review discusses the classification, pathophysiology, and clinical presentations of the porphyrias. These include those associated with neurovisceral attacks (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase [alad] deficiency porphyria) and the porphyrias associated with cutaneous photosensitivity (porphyria cutanea tarda, hepatoerythropoietic porphyria, erythropoietic protoporphyria, and congenital erythropoietic porphyria). Specific emphasis on the epidemiology, molecular defects and pathophysiology, clinical features, diagnosis, and treatment are discussed for each of these disorders. A table lists the safe and unsafe drugs for patients with porphyrias. Figures illustrate the genetic pathways of the disorders and the activities of enzymes of the heme biosynthetic pathway. This review contains 2 highly rendered figures, 1 table, and 96 references.

Urinary Porphyrinogens in Normal Subjects and in Patients with Porphyria Cutanea Tarda and Acute Intermittent Porphyria

1993 ◽  
Vol 25 (08) ◽  
pp. 454-455 ◽  
Author(s):  
A. Hernandez ◽  
P. Sepúlveda ◽  
B. Fernandez-Cuartero ◽  
R. De Salamanca
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Normal Subjects

scholarly journals ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria

2021 ◽  
Author(s):  
Colin P Farrell ◽  
Gaël Nicolas ◽  
Robert J. Desnick ◽  
Charles J. Parker ◽  
Jerome Lamoril ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Clinical Phenotype ◽  
Acute Intermittent Porphyria ◽  
Mendelian Inheritance ◽  
Erythropoietic Protoporphyria ◽  
Transporter Protein ◽  
Hereditary Coproporphyria ◽  
Knockout Animals

The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a symptomatic proband, penetrance is higher. These observations suggest that genetic factors, in addition to mutation of the specific enzyme of the biosynthetic pathway of heme, contribute to the clinical phenotype. Recent studies by others suggested that the genotype of the transporter protein ABCB6 contribute to the porphyria phenotype. Identifying the molecule(s) that are transported by ABCB6 has been problematic and has led to uncertainty with respect to how or if variants/mutants contribute to phenotypic heterogeneity. Knockout mouse models of Abcb6 have not provided a direction for investigation as homozygous knockout animals do not have a discrete phenotype. To address the proposed link between ABC6 genotype and porphyria phenotype, a large cohort of patients with acute hepatic porphyria and erythropoietic protoporphyria was analyzed. Our studies showed that ABCB6 genotype did not correlate with disease severity. Therefore, genotyping of ABCB6 in patients with acute hepatic porphyria and erythropoietic protoporphyria is not warranted.

scholarly journals An overview of the cutaneous porphyrias

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 1906 ◽  
Author(s):  
Robert Dawe
Keyword(s):  
Liver Disease ◽  
Visible Light ◽  
Porphyria Cutanea Tarda ◽  
Marrow Transplant ◽  
Ultraviolet B ◽  
Erythropoietic Protoporphyria ◽  
Liver Iron ◽  
Underlying Liver Disease ◽  
Liver Iron Overload ◽  
Enzyme Defects

This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin–haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin. The single commonest cutaneous porphyria in most parts of the world is acquired porphyria cutanea tarda, which is usually due to chronic liver disease and liver iron overload. The next most common cutaneous porphyria, erythropoietic protoporphyria, is an inherited disorder in which the accumulation of bile-excreted protoporphyrin can cause gallstones and, rarely, liver disease. Some of the porphyrias that cause blistering (usually bullae) and fragility (clinically and histologically identical to porphyria cutanea tarda) can also be associated with acute neurovisceral porphyria attacks, particularly variegate porphyria and hereditary coproporphyria. Management of porphyria cutanea tarda mainly consists of visible-light photoprotection measures while awaiting the effects of treating the underlying liver disease (if possible) and treatments to reduce serum iron and porphyrin levels. In erythropoietic protoporphyria, the underlying cause can be resolved only with a bone marrow transplant (which is rarely justifiable in this condition), so management consists particularly of visible-light photoprotection and, in some countries, narrowband ultraviolet B phototherapy. Afamelanotide is a promising and newly available treatment for erythropoietic protoporphyria and has been approved in Europe since 2014.

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