The concentration of immunoreactive uroporphyrinogen decarboxylase has been measured in erythrocytes from 17 patients with porphyria cutanea tarda (PCT) from 10 families, from 74 of their relatives, and from 47 control subjects. The 10 families were divided into two groups according to their erythrocyte enzyme concentrations. Group A contained four families in which at least two subjects had ov...

1.1 Figure 1 of Annex A plots data for the 301 PCTs out of the 303 listed in the Department of Health’s document for which figures are available for both axes. The y-axis is the (presumably cumulative) surplus (negative if deficit) by the end of 2004-05, expressed as a percentage of the 2004-05 turnover. The x-axis is the PCT’s target index for the period 2003/6, defined as the (per capita) rat...

Urine is the most frequent specimen used in the initial evaluation of adult patients who present with photosensitivity. When urine porphyrins are abnormal, characterization of the chromatogram is facilitated by calculation of uroporphyrin-to-heptacarboxylate porphyrin (uro/hepta) and uroporphyrin-to-isocoproporphyrin (uro/iso) ratios. The most frequent abnormal pattern, and that most consistent...

OBJECTIVES To differentiate the porphyrias by clinical and biochemical methods. DESIGN AND METHODS We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an algorithm for their biochemical differentiation. Diagnoses were established using clinical and biochemical data. Porphyrin analyses were performed by high performance liquid chromatogra...

Porphyrias are an uncommon, heterogeneous group of metabolic diseases caused by inherited or acquired deficiency of specific enzymes in the heme biosynthetic pathway resulting in an excess of porphyrins (red-brown pigments) and their precursors. Accumulation of heme precursors, such as porphyrinogens that are spontaneously oxidized to porphyrins, is responsible for various clinical features. Po...

Porphyria cutanea tarda and erythropoietic porphyria are disorders of heme synthesis that originate in the liver and bone marrow, respectively. Each is characterized by increased accumulation of uroporphyrin, I, by cutaneous photosensitivity, and in some patients by indurated plaques and scarring that resemble scleroderma. These scleroderma-like lesions occur in light-exposed and light-protecte...