Porphyrin Distribution and Porphyrin Excretion in Human Congenital Erythropoietic Porphyria

Eriksen, L.; Eriksen, Nora

doi:10.1080/00365517409082502

Cited by 8 publications

(8 citation statements)

References 17 publications

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“…This is to be described elsewhere. Also, others have observed members of the series in an atypical case of congenital erythropoietic porphyria (21,22). We have identified P2 in the feces in three typical examples of the latter disease, a finding also to be reported separately.…”

Section: Watson In Preparation)supporting

confidence: 55%

See 1 more Smart Citation

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

Watson¹,

Cardinal²,

Bossenmaier³

et al. 1975

Proc. Natl. Acad. Sci. U.S.A.

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A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegate. 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"9 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 porphyrias in this sib ing pair.Porphyria cutanea tarda (PCT) and porphyria variegata (PV) are now generally recognized as entirely independent forms of porphyria. The genetic character of the latter is overt, that of the former relatively occult. PV was first known and is still at times referred to as South African genetic porphyria; while PCT has commonly been designated as "symptomatic" or "acquired." Nevertheless, we have observed PCT in 27 of 67 members examined, in 11 families (C. J. Watson, K. Ahmed, I. Bossenmaier, and R. Cardinal, in preparation). The same study reveals many other instances of familial occurrence in the literature. In addition to the foregoing families, 74 "sporadic" cases of PCT, apparently nonfamilial, were represented in the same roster of 464 cases of porphyria of all types observed since 1938. The relative infrequence of familial in contrast to "sporadic" PCT has often been ascribed to low penetrance of an autosomal dominant gene, and the phenotypic manifestations to "revealing" factors, notably alcohol, estrogens, iron overload, immunologic disturbances, and certain others (G. Gulmen, R. Cardinal, I. Bossenmaier, Z. J. Petryka, and C. J. Watson, in preparation).The present report describes a sister and brother, the former studied first because of an almost fatal acute neurologic relapse related to chemically typical PV; the latter found to have outspoken chemical evidence of PCT with very mild cutaneous manifestations to which little attention had been given.CASE PROTOCOLS P430, female, 54, German-American ancestry. Admitted to Northwestern Hospital, Minneapolis, on November 16, 1971, in extremis, with quadriplegia, respiratory paralysis, and vagal involvement including marked tachycardia and laryngeal weakness. Further clinical details are to be described separately.The Watson-Schwartz test for porphobilinogen (1), carried out in the local hospital, was strongly positive, confirming the suspected diagnosis of acute porphyria.She was transferred to this hospital and unit because of profound respiratory difficulty for which a tracheostomy with assisted respiration became ne...

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Section: Watson In Preparation)supporting

confidence: 55%

“…The basis of this difference has not been determined. While it has been suggested that the isocoproporphyrin series is purely hepatogenous, even in congenital erythropoietic porphyria (21,22) (3)(4)(5).…”

Section: Watson In Preparation)mentioning

confidence: 99%

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

Watson¹,

Cardinal²,

Bossenmaier³

et al. 1975

Proc. Natl. Acad. Sci. U.S.A.

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“…It has been claimed that acidification of urine is sufficient for the quick conversion of porphyrinogens into porphyrins (7,8). Schwartz et al (9) used iodine äs an oxidation agent; H 2 0 2 (10,11) and light are also used.…”

Section: Introductionmentioning

confidence: 99%

Porphyrinogens in Urine in Various Types of Porphyrias

Martásek¹,

Jirsa²,

Kordač³

1982

CCLM

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Porphyrinogens were determined in very fresh, diluted morning urine in two types of hepatic porphyria, using a simple and very quick spectrophotometric method. It was shown that acidification by itself is insufficient for the complete conversion of colourless porphyrinogens into porphyrins in photometric determination of porphyrins in diluted urine. A correlation was shown between percentual content of porphyrinogens and the sum of pentacarboxyporphyrin and coproporphyrin. A difference was found between the excretion of porphyrinogens in morning fresh urine in porphyria cutanea tarda (average porphyrinogen fraction 22.5%, SD 10.3% of total porphyrins) and in acute intermittent porphyria (average porphyrinogen fraction 77.1 %, SD 9.3% of total porphyrins). The method is at the same time suitable for the detection of urobilinoids in urine. Oxidation of the urine in acute intermittent porphyria is recommended before adsorption on talc and subsequent thin j layer chromatography, because porphyrinogens are not adsorbed on talc.

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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: 92%

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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Porphyrin Distribution and Porphyrin Excretion in Human Congenital Erythropoietic Porphyria

Cited by 8 publications

References 17 publications

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

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

Porphyrinogens in Urine in Various Types of Porphyrias

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

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