Linked Life Data

12357337

Source:http://linkedlifedata.com/resource/pubmed/id/12357337

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2002-10-1
pubmed:abstractText
Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. Fifty-two per cent of patients had experienced clinical symptoms: 40% had photosensitivity, 27% acute attacks and 14% both manifestations. The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. We have studied the correlation between PPOX genotype and clinical outcome of 90 patients with the three most common Finnish mutations I12T, R152C and 338G-->C. The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). Therefore, the occurrence of photosensitivity was lower in the I12T group compared to the R152C group (P=0.001), whereas no significant differences between the R152C and 338G-->C groups could be observed. Biochemical abnormalities were significantly milder suggesting a milder form of the disease in patients with the I12T mutation. In all VP patients, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks. The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1,000 nmol/day was associated with an increased risk of both skin symptoms and acute attacks. All patients with an excretion of more than 1,000 nmol/day experienced either skin symptoms, acute attacks, or both.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
649-57
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12357337-Adolescent, pubmed-meshheading:12357337-Adult, pubmed-meshheading:12357337-Aged, pubmed-meshheading:12357337-Aged, 80 and over, pubmed-meshheading:12357337-Coproporphyrins, pubmed-meshheading:12357337-Feces, pubmed-meshheading:12357337-Female, pubmed-meshheading:12357337-Finland, pubmed-meshheading:12357337-Flavoproteins, pubmed-meshheading:12357337-Genotype, pubmed-meshheading:12357337-Humans, pubmed-meshheading:12357337-Male, pubmed-meshheading:12357337-Middle Aged, pubmed-meshheading:12357337-Mitochondrial Proteins, pubmed-meshheading:12357337-Oxidoreductases, pubmed-meshheading:12357337-Oxidoreductases Acting on CH-CH Group Donors, pubmed-meshheading:12357337-Phenotype, pubmed-meshheading:12357337-Porphyrias, Hepatic, pubmed-meshheading:12357337-Protoporphyrinogen Oxidase, pubmed-meshheading:12357337-Protoporphyrins, pubmed-meshheading:12357337-Structure-Activity Relationship, pubmed-meshheading:12357337-Uroporphyrins
pubmed:year
2002
pubmed:articleTitle
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
pubmed:affiliation
Department of Medicine, Division of Endocrinology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland. mikael.fraunberg@hus.fi
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't