Congenital Erythropoietic Porphyria With a Hitherto Undescribed Porphyrin Pattern

Hofstad, F.; Seip, M; Eriksen, L.

doi:10.1111/j.1651-2227.1973.tb08123.x

Cited by 37 publications

(28 citation statements)

References 11 publications

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“…Hemolytic anemia sometimes occurs in congenital erythropoietic porphyria (2) and it has also been reported in a few cases of erythrohepatic porphyria (20). In those cases, anemia is presumably related to the high porphyrin content of erythrocytes.…”

Section: Discussionmentioning

confidence: 99%

“…Tritiated coproporphyrin III and harderoporphyrin were synthesized similarly using 1 mCi of [2,33H]ALA (1.5 mCi/Mmol), except that the incubation was carried out under aerobic conditions. Radioactive harderoporphyrin was isolated by thin-layer chromatography as described for coproporphyrin (10 (20 mCi/mmol) as substrate was described in detail elsewhere (10). Briefly, [14C] coproporphyrin was reduced with sodium amalgam and incubated for 1 h with the enzymatic preparation ('0.2 to 0.3 mg protein) in a reaction mixture of 0.55 ml containing Tris-HCl, 110 mmol/l; ascorbate, 4.5 mmol/l; albumin, 2.3 mg/ml; and coproporphyrinogen, 1.3-1.6 umol/l.…”

Section: Methodsmentioning

confidence: 99%

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Harderoporphyria: a variant hereditary coproporphyria.

Nordmann¹,

Grandchamp²,

H³

et al. 1983

J. Clin. Invest.

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A B S T R A C T Three siblings with intense jaundice and hemolytic anemia at birth were found to excrete a high level of coproporphyrin in their urine and feces; the pattern of fecal porphyrin excretion was atypical for hereditary coproporphyria because the major porphyrin was harderoporphyrin (>60%; normal value is <20%). The lymphocyte coproporphyrinogen III oxidase activity of each patient was 10% of control values, which suggests a homozygous state. Both parents showed only mild abnormalities in porphyrin excretion and lymphocyte coproporphyrinogen III oxidase activity decreased to 50% of normal values, as is expected in heterozygous cases of hereditary coproporphyria. Kinetic parameters of coproporphyrinogen III oxidase from these patients were clearly modified, with a Michaelis constant 15-20-fold higher than normal values when using coproporphyrinogen or harderoporphyrinogen as substrates. Maximal velocity was half the normal value, and we also observed a marked sensitivity to thermal denaturation. The possibility that a mutation affecting the enzyme on the active center which is specifically involved in the second decarboxylation (from harderoporphyrinogen to protoporphyrinogen) was eliminated by experiments on rat liver that showed that coproporphyrinogen and harderoporphyrinogen were metabolized at the same active center. The pattern of porphyrin excretion and the coproporphyrinogen oxidase from the three patients exhibited abnormalities that were different from the abnormalities found in another recently described homozygous case of hereditary coproporphyria. We suggest naming this variant of coproporphyrinogen oxidase defect "harderoporphyria."

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Harderoporphyria: a variant hereditary coproporphyria.

Nordmann¹,

Grandchamp²,

H³

et al. 1983

J. Clin. Invest.

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“…Erythrocytes contain mostly large amounts of uroporphyrin I, but in some patients main- Fritsch/Lang/Bolsen/Lehmann/Ruzicka ly zinc protoporphyrin has been demonstrated [19,26]. Fluorescence mircoscopic examinations of blood smears show a bright fluorescence of erythrocytes (fluorocytes) [27].…”

Section: Porphyrin Analysismentioning

confidence: 99%

Congenital Erythropoietic Porphyria

Fritsch

Lang

Bolsen

et al. 1998

Skin Pharmacol Physiol

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Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP.

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“…In this connection Eriksen and co-workers (61,62) have described a remarkable case of CEP in a boy of 2, one which would be most difficult to explain on the basis of a Co-S deficiency. The red cells contained a great increase of "Proto-" and the excreta considerable type I11 as well as type I porphyrin.…”

Section: Normal R B C T Exogenous Upg-smentioning

confidence: 93%

The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (cep)

et al. 1976

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Normal or increased amounts of series III porphyrins with greater amounts of series I were observed on incubation of PBG in hemolysates of congenital erythropoietic porphyria vs. normal erythrocytes, human or bovine. Correlation with reticulocyte percentage was poor, in the aggregate a general trend toward increased values of both isomers I and III was noted with increasing reticulocytes. When the percent of type III was low the net amount was increased as compared with normal. Hemolysates of non-porphyric, reticulocyte-rich red cells (hemolytic or posthemorrhagic anemia) formed only minute amounts of type I porphyrin but at the same time no more, or even less type III than the porphyric hemolysates, although representing red cells of greater reticulocyte content. No evidence of deficient heme synthesis was observed in porphyric hemolysates incubayed with [14C]-porphobilinogen or 59Fe. Other studies of porphyric hemolysates incubated with and without added mouse spleen synthetase failed to reveal evidence of an absolute UPG-III cosynthetase (Co-S) deficiency. The large increases of type I porphyrin with normal or increased formation of type III, both in the disease and in the hemolysates, are believed due to a primary increase of ALA-S or UPG-S activity rather than a decrease of Co-S. Possible mutations which might be responsible for this increase are considered.

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Congenital Erythropoietic Porphyria With a Hitherto Undescribed Porphyrin Pattern

Cited by 37 publications

References 11 publications

Harderoporphyria: a variant hereditary coproporphyria.

Harderoporphyria: a variant hereditary coproporphyria.

Congenital Erythropoietic Porphyria

The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (cep)

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