Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity
نویسندگان
چکیده
منابع مشابه
Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda.
Porphyria cutanea tarda (PCT) results from a metabolic block in heme synthesis at the level of uroporphyrinogen decarboxylase. We measured the activity of one of the enzymes preceding it in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD; EC 4.3.1.8), in erythrocytes of 47 patients with symptomatic or asymptomatic familial or sporadic PCT. PBGD activity was significantly increase...
متن کاملHeterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany.
Patients with acute intermittent porphyria can be subdivided into three groups, according to the porphobilinogen deaminase activity in their erythrocytes. The first group has lowered, the second overlapping and the third normal porphobilinogen deaminase activity. Of 385 acute intermittent porphyria patients 5% had normal porphobilinogen deaminase activity. Gene carriers of acute intermittent po...
متن کاملFour mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families...
متن کاملSteady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
PCR-based solid-phase minisequencing method was used to analyze the steady-state mRNA levels of the porphobilinogen deaminase gene in eight patients with acute intermittent porphyria. The patients had the earlier characterized mutations 517C --> T (R173W), 518G --> A (R173Q), 673C --> G (R225G), 673C --> T (R225X), 713T --> G (L278P), and 1073delA (frame shift). All mutations, except the missen...
متن کاملDemystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme ass...
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ژورنال
عنوان ژورنال: Acta Dermato-Venereologica
سال: 2001
ISSN: 0001-5555
DOI: 10.1080/000155501317140098