Congenital Erythropoietic Porphyria

Bhutani, L. K.; Sood, S; Das, Prashant; Deshpande, Shridhar G.; Mulay, D N; Kandhari, Kahn C.

doi:10.1001/archderm.1974.01630090061013

Cited by 18 publications

(1 citation statement)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To a lesser extent, porphyrins also accumulate in liver where the haem synthetic machinery is regulated in response to the metabolic requirements (Schmid et al , , ). In addition, incidences of porphyrin deposition in the meninges, brain, heart, lungs, kidney and intestine have also been reported (Bhutani et al , ).…”

Section: Biochemical Backgroundmentioning

confidence: 98%

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

2016

View full text Add to dashboard Cite

Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of CEP include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of ALAS2, the first and rate-limiting of the haem synthesis enzymes in erythroid cells, has also been reported. CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out.

show abstract

Section: Biochemical Backgroundmentioning

confidence: 98%

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

2016

View full text Add to dashboard Cite

show abstract

Porphyrias

Mascaró¹,

Lim²

2011

Harper's Textbook of Pediatric Dermatology

View full text Add to dashboard Cite

Porphyrias in Japan

Kond

Yand

1994

Stem Cells

View full text Add to dashboard Cite

Porphyrias are a clinically diverse group of diseases due to inherited deficiencies of enzymes in the heme biosynthetic pathway. Much progress has been made in the analysis of porphyrin metabolism, and the molecular biology of the enzymes in heme biosynthesis and their mutations in the porphyrias are now actively investigated. These diseases are classified into two types: erythropoietic and hepatic, depending on the major site of the clinical expression of the enzyme defect. They are further classified into eight subtypes according to the porphyrin metabolites that are over-produced and according to the causative enzyme defects. These diseases are all inherited as auto-soma1 dominant traits, except for congenital erythropoietic porphyria (CEP) and 6-aminolevulinic acid dehydratase (ALAD) deficiency porphyria (ADP), which are recessive. In addition, a few homozygous forms of the dominantly inherited porphyrias have also been recognized, which are presumably due to mutations with a milder enzymatic defect. The main clinical manifestations of the porphyrias are neurologic syndromes and skin photosensitivity.

show abstract

Congenital Erythropoietic Porphyria

Cited by 18 publications

References 3 publications

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

Porphyrias

Porphyrias in Japan

Contact Info

Product

Resources

About