The manifestation of @entity10921 reflects genetic and environmental factors. Mutations in the @entity27792 gene, located at chromosome 1p34, discriminate @entity10921 from sporadic cases. Furthermore, mutations in the @entity9595 gene may be involved in the aetiology. In this study 53 unrelated Danish @entity1 with @entity10921 were classified according to @entity27792 and @entity9595 gene mutations and the genotype related to the clinical and biochemical data. Thirteen @entity1 (25%) had @entity10921 . The results signify the advantage of DNA diagnostics for identification of familial cases, as anamnestic data are doubtful and erythrocyte @entity27792 activity measurements insufficient for correct classification. Eight @entity1 with @entity10921 (15%) were homozygous for the @entity9595 gene @entity14399 mutation and 8 @entity1 were heterozygous. @entity1 homozygous for the @entity9595 related mutation showed biochemical evidence of excessive @entity68 storage as well as increased urine @entity7170 excretion levels. This seems to confirm a relationship between @entity10921 and @entity9595 . No differences were found between @entity1 with sporadic and @entity10921 regarding age of onset, clinical severity, sex distribution, liver function tests and @entity68 storage parameters. However, daily @entity167 intake and use of @entity2931 were reported more frequently in the group of sporadic @entity1 . It was found that @entity1 were over-represented in our study.

Familial and @entity10921 : clinical, biochemical and genetic features with emphasis on XXXX status.

@entity1 :: ('9606', 'Species') :: ['women', 'Patients', 'patients'] @entity10921 :: ('MESH:D017119', 'Disease') :: ['familial porphyria cutanea tarda', 'porphyria cutanea tarda'] @entity68 :: ('MESH:D007501', 'Chemical') :: ['iron'] @entity2931 :: ('CHEBI:50114', 'Chemical') :: ['oestrogens'] @entity167 :: ('CHEBI:16236', 'Chemical') :: ['alcohol'] @entity7170 :: ('CHEBI:8337', 'Chemical') :: ['porphyrin'] @entity27792 :: ('7389', 'Gene') :: ['uroporphyrinogen decarboxylase'] @entity14399 :: ('p|SUB|C|282|Y', 'ProteinMutation') :: ['C282Y'] @entity9595 :: ('MESH:D006432', 'Disease') :: ['haemochromatosis']
@entity68 :: (MESH:D007501,Chemical) :: ['iron']
