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PubMed1978

Faecal porphyrin excretion in various types of porphyria. Thin layer chromatographic study.

A new method of thin layer chromatography was used for the study of faecal porphyrins in 31 porphyric patients (20 cases of porphyria cutanea tarda, 5 cases of porphyria variegata, 2 cases of hereditary coproporphyria, 1 case of acute intermittent porphyria and 3 cases of erythropoietic protoporphyria), 14 of their clinically normal relatives and 5 controls. The pattern obtained was characteristic of each type of porphyria and compared to previously published data.

Adult↗

PubMed1978

Faecal porphyrin excretion in various types of porphyria. Thin layer chromatographic study.

Adolescent↗

PubMed1977

delta-Aminolevulinic acid: influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria.

Symptoms of acute porphyria have been attributed to effects of delta-aminolevulinic acid (ALA). We report that ALA selectively competes for the binding of tritiated gamma-aminobutyric acid ([3H]GABA) associated with synaptic GABA receptors in central nervous system membranes. Concentrations of ALA that inhibit GABA receptor binding are consistent with levels of ALA thought to exist in the central nervous system of porphyric patients. Some of the symptoms of acute porphyria resemble those elicited by muscimol, a potent GABA agonist drug. Barbiturates, which exacerbate porphyric symptoms, are potent facilitators of the synaptic actions of GABA. The results suggest that some symptoms of acute porphyria might be attributable to a mimicking by ALA of GABA at its central nervous system receptor sites.

Aminolevulinic Acid↗

PubMed1978

Familial and sporadic porphyria cutanea: two different diseases.

Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjects. Asymptomatic carriers were always found in the family. No enzyme deficiency was found in erythrocytes from subjects with sporadic porphyria cutanea. The measurement of URO decarboxylase in erythrocytes seems to allow an easy distinction between these two groups of porphyria cutanea.

Adolescent↗

PubMed1979

Increased sensitivity to lead -- animal model: feline porphyria.

Individuals with the genetically inherited condition of latent porphyria have been previously hypothesized (1) as being a potential high risk group to elevated lead exposure. More specifically, persons with either clinical symptoms of porphyria or the latent form who also are exposed to excessive lead may have their clinical symptoms exacerbated or possibly induced prematurely, respectively. This paper presents evidence that an animal model (i.e., domestic cats with congenital porphyria) may facilitate the testing of the previous hypothesis.

Animals↗

PubMed1977

[Premature cutaneous porphyria caused by oral contraceptives (author's transl)].

Four women, aged 23 to 26 years, fell ill with cutaneous hepatic porphyria. All of them had taken oestrogen-contaning oral contraceptives three to eight years before the illness. In one instance there was a time relationship with a progestogen preparation. The clinical and biochemical signs were those of porphyria cutanea tarda, but contrary to this disease there was a shift towards heptacarboxyporphyrin in the uroporphyrin/heptacarboxyporphyrin ratio (thin-layer chromatography, classified according to Doss). This difference and the onset at an early age suggest that the described disease may be called a hormone-induced premature cutaneous porphyria.

Adult↗

PubMed1978

Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.

To investigate the role of uroporphyrinogen decarboxylase in the pathogenesis of the sporadic form of porphyria cutanea tarda, we measured this enzyme in liver, erythrocytes and cultured skin fibroblasts, and also measured coproporphyrinogen oxidase and the total iron concentration in liver. The mean uroporphyrinogen decarboxylase activity was lower in liver from seven male patients (9.0 pmol of coproporphyrin per minute per milligram of protein) than in 12 controls, including seven with alcoholic liver disease (22.3 pmol per minute per milligram; P less than 0.05). Coproporphyrinogen oxidase activities were the same in each group. Liver iron concentrations were lower during remission, but uroporphyrinogen decarboxylase activities were not related to clinical activity for uroporphyrin excretion. Erythrocyte and fibroblast enzyme activities were the same as in normal subjects. A hepatic uroporphyrinogen decarboxylase defect is a prerequisite for the development of porphyria cutanea tarda, but other factors, which probably do not alter uroporphyrinogen decarboxylase activity, determine the clinical onset. In sporadic porphyria cutaneous tarda, the enzyme defect appears to be restricted to the liver.

Adult↗

PubMed1977

Inheritance of porphyria cutanea tarda. Analysis of 14 cases in 5 families.

The existence of hereditary porphyria cutanea tarda must be supported by chemical and clinical investigations capable of discriminating this porphyria from porphyria variegata, because the clinical symptoms may overlap. On the basis of such investigations (normal urinary excretion of deltaALA and of porphobilinogen; urinary excretion of large amounts of 8- and 7-carboxyl porphyrins; faecal coproporphyrin and X porphyrin fractions may be increased) we have been able to classify 14 cases, out of 200 cases of PCT that we have observed in the last 7 years, as hereditary PCT. The 14 patients belong to 5 different families: two members in each of the first three families, 3 members in the fourth, and 5 members in the fifth. In this last family heredity is bilateral.

Adult↗

PubMed1977

Reduced ferrochelatase activity: a defect common to porphyria variegata and protoporphyria.

Erythroid ferrochelatase activity has been studied in the normoblasts of patients with porphyria variegata and protoporphyria. Two methods were used for the investigation: one using intact cells and the other lysed cells, each measuring the amount of haem synthesized by normoblasts. In patients with porphyria variegata, ferrochelatase activity estimated by both methods was approximately 50% of the normal, and in protoporphyria the ferrochelatase activity was normal in intact normoblasts but was 20% of the normal in sonicated normoblasts (marrow lysates). It is suggested therefore that in porphyria variegata a dominantly inherited structural gene mutation results in an active ferrochelatase whereas in protoporphyria the genetic mutation results in an unstable ferrochelatase. The mechanism of the enzyme instability is not known though a number of postulates are discussed.

Adolescent↗

PubMed1975

Neuropathy in latent hereditary hepatic porphyria.

Peripheral nerve conduction velocoties were measured in 20 patients with acute intermittent porphyria and five with variegate porphyria and in 25 controls matched for age and sex. None of the porphyric patients had acute symptoms on examination, and nine had never had symptoms. Compared with the controls, patients had a significantly slower conduction velocity of the slower motor fibres of the ulnar nerve (P less than 0-001) and a slower sensory conduction velocity of the ulnar and median nerves (P less than 0-05). There was no significant difference between the patients and controls in the maximum motor conductionvelocity of the median, ulnar, deep peroneal, or posterior tibial nerves. Slight peripheral neuropathy seems to be associated with latent hereditary hepatic porphyria, even in patients who have never had symptoms.

Adolescent↗

PubMed1975

Grand mal seizures and acute intermittent porphyria. The problem of differential diagnosis and treatment.

A 36-year-old white man had both acute intermittent porphyria and long-standing idiopathic grand mal seizures. Diphenylhydantoin apparently adversely affected both the clinical and biochemical parameters of the acute intermittent porphyria. Comparison of urinary levels of the porphyrin precursors, delta aminolevulinic acid and porphobilinogen, under controlled diet conditions before and after withdrawal of diphenylhydantoin, showed that this drug accounted for approximately one-half of the porphyrin precursor excretion. Significant clinical improvement of the porphyria followed withdrawal of the diphenylhydantoin. Bromides appeared to be approximately as effective as diphenylhydantoin for seizure control in this patient.

5-Aminolevulinate Synthetase↗

PubMed1978

The detection of porphyria in photosensitive patients.

The biochemical diversity of the various porphyris often leads to incomplete investigation of photosensitive patients and porphyria may be excluded wrongly on the basis of normal urinary porphyrins alone. Establishing a biochemical referral centre for photosensitive patients suspected of having porphyria led to the diagnosis of 5 cases of porphyria cutanea tarda (PCT) and 2 cases of erythropoietic protoporphyria (EPP) among 34 patients referred by dermatologists over a period of 12 months. Iron overload was conformed in 3 the PCT patients by plasma ferritin assay. Studies on the available families of the two EPP patients revealed elevated red cell protoporphyrin levels in several clinically asymptomatic relatives.

Adolescent↗

PubMed1979

[Hepatic porphyria].

Porphyria is making increasing demands on the attention of clinicians and research worker. An account is given of hepatic forms, since these have recently come into prominence on account of recent advances in the understanding of their metabolic, diagnostic and therapeutic aspects. A description of the physiopathology of porphyrin metabolism is followed by an examination of the incidence, genetic features, aetiology, pathogenesis, pathological anatomy, symptomatology, diagnosis, prognosis, and treatment of each form. Particular attention is devoted to intermittent acute and cutanea tarda porphyria, since these are more commonly encountered in practice. Personal experience gathered in a large series of cases of cutanea tarda porphyria is presented.

Aminolevulinic Acid↗

PubMed1979

Porphyria cutanea tarda: clinical and laboratory features.

Eleven patients with porphyria cutanea tarda were studied. Biochemical confirmation of the clinical diagnosis required only determination of the total urine porphyrin concentration in a sample of urine voided on rising in the morning. The patients were divided for convenience of discussion into four groups differing in age, sex and etiologic factors. Of the six patients in whom a liver biopsy was done one was shown to have micronodular cirrhosis. Except for a modest elevation in the serum glutamic oxaloacetic transaminase values when the patients were first seen, no evidence was found for liver disease apart from the presence of porphyria cutanea tarda. One patient recovered solely by abstaining from alcohol consumption. Five patients underwent phlebotomy; their iron stores had been found to be between 2 and 3 g. Decreasing urine porphyrin values correlated well with decreasing serum ferritin values during the course of phlebotomy. Porphyria cutanea tarda, which is due to a deficiency of uroporphyrinogen decarboxylase, is manifested in association with alcohol abuse, estrogen therapy, exposure to chlorinated hydrocarbons or increased tissue iron stores, or a combination of these factors. Although relatively uncommon, this condition raises important and unresolved issues regarding the hepatotoxicity of alcohol, estrogens, chlorinated hydrocarbons and iron.

Adult↗

PubMed1978

[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)].

In chronic hepatic porphyria, including the clinical phase, porphyria cutanea tarda, the activity of uroporphyrinogen decarboxylase is decreased not only in the liver, but also in the erythrocytes. The synonomous decrease in the enzymic activity in liver and erythrocytes in both familial and sporadic hepatic porphyria shows that the disturbance of this enzyme is the primary genetic defect of this condition; inheritance of the defect is probably autosomal and dominant. The clinical manifestation of disturbances of porphyrin metabolism are precipitated, however, by additional factors, such as liver damage, alcohol, oestrogens and neoplastic growths. In the absence of these other pathogenic influences, the enzyme defect is compensated and does not result in disturbances of haem or haemoglobin synthesis, either in the liver or the bone marrow.

Carboxy-Lyases↗

PubMed1978

[Porphyria variegata: a study of a large family (author's transl)].

Porphyria variegata (or South-African porphyria) is not a rare disease in Europe. Its transmission, in a Walloon family, is described. The pedigree extends over 7 generations and comprises 184 individuals. It was possible to carry out biological studies on 100 family members. The results of the analyses are presented and discussed. The levels of fecal porphyrines, the presence of cutaneous lesions and the genealogical relationships permitted the establishment of a coherent picture. Three other families suffering from the same disease are briefly reported. A systematic search for carriers of the gene is indispensable in porphyrias. All identified carriers must be warned of the risks they run and must be supplied with a list of medicaments to be avoided. The prevention of cutaneous lesions by beta-carotene is envisaged.

Adult↗

PubMed1975

[Porphyria variegata (author's transl)].

Porphyria variegata, one of the rarer forms of hepatic porphyria, is brought to the attention through presentation of one case. Its clinical and chemical laboratory characteristics are compared with other hepatic porphyrias and pathogenesis, hereditary transmission and therapy are gone into.

Adult↗

PubMed1979

Lack of linkage between acute intermittent porphyria and the A and B loci of the HLA system.

Forty-six members of a family known to have Porphyria were studied. As the disease is often latent clinically, erythrocyte uroporphyrinogen I synthetase activity was determined to classify the subjects as being healthy or carriers. HLA--A, B, C, Bf, GLO antigens were determined. No linkage between acute intermittent Porphyria and the HLA system was noted in this family.

Acute Disease↗