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.

Erythrocyte uroporphyrinogen decarboxylase activity and therapeutic phlebotomy in porphyria cutanea tarda

2000 ◽  
Vol 04 (08) ◽  
pp. 736-738
Author(s):  
FERENC KÓSZÓ ◽  
MÁRTA MORVAY ◽  
ATTILA DOBOZY ◽  
KRISZTINA BODA
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Decarboxylase Activity ◽  
Type I ◽  
Type Ii ◽  
Uroporphyrinogen Decarboxylase ◽  
The Family ◽  
Different Types ◽  
History Of ◽  
A Minor ◽  
Genetically Determined

On the basis of the uroporphyrinogen decarboxylase ( UD ) activity in the erythrocytes, and the family history of the disease, different types of porphyria cutanea tarda ( PCT ) can be distinguished. In some cases, however, the distinction may involve some uncertainty (overlapping of subgroups). The question arises of whether the current erythrocyte UD activities in the different types of PCT are determined merely genetically. The erythrocyte UD activities in 72 unrelated patients with different forms of PCT (62 with type I PCT and 10 with type II PCT ), in different stages of the disease, were measured in order to test whether the activity exhibits any change during the long period of recovery. In both types the activities were faintly but significantly increased, from 94.9% (in PCT I) or 54.3% (in PCT II) up to 98.4% or 56.1% respectively. In both types the lower activity in the untreated condition can be attributed to a combination of several factors, including oxidative damage to UD , which results in a minor additional inhibition of the genetically determined enzyme activities.

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Consanguineous Marriage ◽  
Dominant Mode ◽  
Ocular Lens ◽  
Lens Implantation ◽  
History Of ◽  
Genetic Anomaly

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

Moderate Grade Astrocytoma Presenting in a 4-Month-Old Child with a Family History of von Recklinghausen's Neurofibromatosis Spanning Four Generations: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
History Of ◽  
Thalamic Glioma ◽  
Von Recklinghausen's Neurofibromatosis ◽  
Neonatal Lesions ◽  
Von Recklinghausen’S Neurofibromatosis

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.

Congenital Malalignment of the Great Toenails in a Pair of Monozygotic Twins

2005 ◽  
Vol 95 (4) ◽  
pp. 398-400 ◽  
Author(s):  
Esin Özdemir ◽  
Seher Bostanci ◽  
Aynur Akyol ◽  
Pelin Ekmekci ◽  
Erbak Gürgey
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Monozygotic Twins ◽  
Distal Phalanx ◽  
Lateral Deviation ◽  
Variable Expression

Congenital malalignment of the great toenails is the lateral deviation of the long axis of nail growth relative to the distal phalanx. The nails grow slowly, with thickening, curving, and transverse ridging. We describe a pair of 3-year-old monozygotic female twins with congenital malalignment of the great toenails complicated by ingrowing and paronychia. Although there are a few cases without any family history, congenital malalignment is believed to be inherited through an autosomal-dominant gene of variable expression. This report provides further evidence of the heritability of the disease. (J Am Podiatr Med Assoc 95(4): 398–400, 2005)

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.

Common Migraine and Vestibular Function

1981 ◽  
Vol 90 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Joseph U. Toglia ◽  
David Thomas ◽  
Arieh Kuritzky
Keyword(s):  
Family History ◽  
Motion Sickness ◽  
Neurological Disorders ◽  
Vestibular Function ◽  
Common Type ◽  
Vascular Headache ◽  
Hemiplegic Migraine ◽  
History Of ◽  
Complicated Migraine ◽  
The Common

Even though “classic migraine” and “complicated migraine” may be diagnosed readily, “common migraine” may be easily confused with other types of vascular headaches. This differential diagnosis is of great importance for the appropriate choice of drug therapy. It is frequently stated that family history of migraine and history of motion sickness in childhood suggest that a periodic vascular headache is most likely of migrainous origin; although this statement applies to ophthalmoplegic and hemiplegic migraine, it is doubtful that it applies to common migraine. In fact, in a pilot study of patients with common migraine, we have observed that family history and history of motion sickness in childhood did not contribute to the diagnosis. Vestibular dysfunctions are frequently associated with migraine including the common type. Utilizing labyrinthine tests with the aid of electronystagmography, abnormalities of labyrinth function were demonstrated in 80% of patients with common migraine who had no history of vertigo or of other otological and neurological disorders.

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

Familial Bell's Palsy: Analysis of 25 Families

1988 ◽  
Vol 97 (6_suppl3) ◽  
pp. 8-10 ◽  
Author(s):  
Naoaki Yanagihara ◽  
Eiji Yumoto ◽  
Toyohiro Shibahara
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Bell’S Palsy ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Bell's Palsy ◽  
History Of ◽  
Mode Of Inheritance

Of 625 patients with Bell's palsy, 26 from 25 families (4.0%) had a positive family history of Bell's palsy. Genealogic analysis of the families indicated the mode of inheritance of familial Bell's palsy possibly to be autosomal dominant inheritance with low penetration. The prognosis of familial Bell's palsy was generally favorable. Age, sex, recurrence, and inherited factors are discussed.

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