familial porphyria cutanea tarda

(redirected from FPCT)
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familial porphyria cutanea tarda

An autosomal dominant disorder (OMIM:176100) characterised by adult onset of photosensitive dermatitis and copious urinary excretion of uroporphyrin. Iron overload is often present, resulting in liver damage. 

Molecular pathology
Caused by defects of UROD, which encodes uroporphyrinogen decarboxylase, an enzyme in the heme biosynthetic pathway.
References in periodicals archive ?
(4) os-Doutor no Centre de recherche interuniversitaire sur la formation et profission ensignante (CRIFPE), Universite de Montreal, Professor do Departamento de Educacao da Universidade Estadual Paulista - UNESP-Rio Claro (RC), Grupo de Pesquisa NEPEF: FPCT (2002) e do Grupo de Pesquisa DOFPPEN.
At the completion of the intervention period, participants at both sites were asked to complete the FIQ and FPCT again and return the surveys in supplied pre-paid envelopes, and results were compared and analysed.
Correlation between connectedness and performance: 50-player dataset #1 Degree Betweenness Closeness Eigenvector Average BA 0.27 0.21 0.31 0.23 0.26 HR 0.58 0.58 0.53 0.51 0.55 RBI 0.50 0.51 0.47 0.40 0.47 SLG 0.38 0.30 0.35 0.36 0.35 FPCT -0.04 0.00 -0.06 -0.02 -0.03 Table 2.
Using denaturing gradient gel electrophoresis (DGGE), we screened the entire coding region of the HFE gene in 57 unrelated PCT patients (15 with fPCT and 42 with sPCT).
When these data were compared with the results obtained in this study (Table 1), only the homozygous state of the C282Y mutation was significantly increased in the fPCT patients.