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At least 19 recordsLinked to original sources
PubMed1975

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.

A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair.

Acute Disease↗
PubMed1976

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects (addendum).

A porphyria kindred in which the index case has porphyria variegata had also been shown to include a case of porphyria cutanea tarda, typical both from chemical and clinical features. The possibility that this was purely acquired rather than genetic seemed unlikely, but could not be wholly excluded. Recently, a niece of both of these cases, although asymptomatic, has been found to conform chemically with porphyria cutanea tarda, including the excretion of the isocoproporphyrin series, and thus represents the second case of this form of porphyria in this family. This strengthens the concept of genetic heterogeneity in this kindred and supports the suggestion of a double heterozygosity, as proposed in the primary paper [Watson, C.J. et al. (1975) Proc. Nat. Acad. Sci. USA 72, 5126-5129].

Heterozygote↗
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↗
PubMed1978

Porphyria variegata--studies of an affected couple and their children.

Porphyria variegata affects approximately 1 in 200 Afrikaans-speaking people in South Africa. This paper reports the first case of a marriage between 2 people with porphyria variegata and describes investigations carried out on their 2 children, who do not exhibit any signs of the disease. The wife had suffered 1 miscarriage at 4 months' gestation.

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↗
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↗
PubMed1979

Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.

Ferrochelatase deficiency has been shown in both porphyria variegata (PV) and erythropoietic protoporphyria (EPP). It has been suggested that in PV there is a decrease in the enzyme, whereas in EPP the enzyme is unstable. In the present study ferrochelatase activity was measured in skin fibroblasts from three patients with PV and three normal subjects. The enzymatic activity in the patients with PV (17.5 +/- 4.5 pmoles heme formed per 10(7) fibroblasts per hour) was 50% of that of the control group (31.0 +/- 3.2 pmoles heme formed per 10(7) fibroblasts per hour). This supports the contention that the enzyme is deficient in PV and that an inactive ferrochelatase is the primary deficiency in this type of porphyria.

Fibroblasts↗
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.

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.

Adolescent↗
PubMed1977

Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias.

There is compelling, indirect evidence of hepatic heme deficiency due primarily to the respective genetic errors of the three inducible hepatic porphyrias, acute intermittent porphyria, porphyria variegata, and hereditary coproporphyria. The induction is enhanced by exogenous inducers such as barbiturate, estrogens and other "porphyrogenic" chemicals and factors, including glucose deprivation. The newer knowledge of the induction of delta-aminolevulinic acid synthetase [delta-aminolevulinate synthase; succinyl--CoA:glycine C-succinyltransferase (decarboxylating), EC 2.3.1.37] in relation to inadequate heme, and repression by heme, stimulated early trials of hematin infusions to overcome the acute relapse in the foregoing inducible porphyrias. Recently this experience has been considerably expanded, 143 infusions of hematin having been given in 22 cases. Studies of the effect on the serum concentrations of delta-aminolevulinic acid and porphobilinogen have shown a highly significant decline, often to 0, especially of delta-aminolevulinic acid. A distinct relationship to the clinical severity of the attack has been evident in the frequency and magnitude of decline of serum delta-aminolevulinic acid and porphobilinogen. This was regularly associated with objective clinical improvement.

5-Aminolevulinate Synthetase↗
PubMed1979

[Diagnosis and differential diagnosis of acute hepatic prophyrias (author's transl)].

Diagnosis of porphyria is a clinical and biochemical procedure. Acute hepatic porphyrias are molecular regulation diseases which are characterized by a relative enzyme deficiency of the ferro-chelatase chain and an induction of hepatic delta-aminoacid synthase. There are indistinct clinical and pathobiochemical transitions between the three acute hepatic types of porphyria: acute intermittent porphyria, hereditary coproporphyria and porphyria variegata. They develop a similar acute clinical syndrome. The differential diagnosis is made possible by a differentiation of porphyrins and porphyrin precursers in the urine and the porphyrines in the stool and by the determination of uroporphyrinogen synthase activity in the erythrocytes.

Acute Disease↗
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↗