The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.

Background: Erythropoietic protoporphyria (EPP) is the most common porphyria in childhood, presenting with painful and burning skin sensations as well as erythema and edema after sun exposure. It represents an inherited disorder of heme metabolism that is due to a reduced ferrochelatase enzyme activity. The diagnosis is usually established when symptoms start by measuring elevated levels of protoporphyrin in erythrocytes.

Short incubation with methyl aminolevulinate for photodynamic therapy of actinic keratoses.

Background: Photodynamic therapy (PDT) using methyl aminolevulinate (MAL) is an effective first-line treatment for actinic keratoses. A reduced incubation period may have practical advantages.

Objective: This study aims to evaluate the effect of incubation time (1 vs.

Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.

The porphyrias are heterogeneous disorders arising from predominantly inherited catalytic deficiencies of specific enzymes along the heme biosynthetic pathway. Congenital erythropoietic porphyria is a very rare disease that is inherited as an autosomal recessive trait and results from a profound deficiency of uroporphyrinogen III cosynthase, the fourth enzyme in heme biosynthesis. The degree of severity of clinical symptoms mainly depends on the amount of residual uroporphyrinogen III cosynthase activity.

[High-dose vitamin therapy as prophylaxis against porphyria cutanea uremica].

50 Patients with chronic renal failure undergoing hemodialysis with or without porphyria cutanea tarda (PCT)-like skin changes were investigated. The total porphyrin amount in erythrocytes, plasma and dialysate and the distribution of porphyrin metabolites in plasma and dialysate were measured. In plasma, the group of patients with skin changes (referred as PCU = porphyria cutanea uremica) showed significantly increased uroporphyrin levels as compared to the non-symptomatic group.