RGD Reference Report - Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. - Rat Genome Database

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Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.

Authors: Elder, GH  Lee, GB  Tovey, JA 
Citation: Elder GH, etal., N Engl J Med. 1978 Aug 10;299(6):274-8.
RGD ID: 4145077
Pubmed: PMID:661926   (View Abstract at PubMed)
DOI: DOI:10.1056/NEJM197808102990603   (Journal Full-text)

To investigate the role of uroporphyrinogen decarboxylase in the pathogenesis of the sporadic form of porphyria cutanea tarda, we measured this enzyme in liver, erythrocytes and cultured skin fibroblasts, and also measured coproporphyrinogen oxidase and the total iron concentration in liver. The mean uroporphyrinogen decarboxylase activity was lower in liver from seven male patients (9.0 pmol of coproporphyrin per minute per milligram of protein) than in 12 controls, including seven with alcoholic liver disease (22.3 pmol per minute per milligram; P less than 0.05). Coproporphyrinogen oxidase activities were the same in each group. Liver iron concentrations were lower during remission, but uroporphyrinogen decarboxylase activities were not related to clinical activity for uroporphyrin excretion. Erythrocyte and fibroblast enzyme activities were the same as in normal subjects. A hepatic uroporphyrinogen decarboxylase defect is a prerequisite for the development of porphyria cutanea tarda, but other factors, which probably do not alter uroporphyrinogen decarboxylase activity, determine the clinical onset. In sporadic porphyria cutaneous tarda, the enzyme defect appears to be restricted to the liver.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
porphyria cutanea tarda  IEP 4145077protein:decreased activity:liver (human)RGD 
porphyria cutanea tarda  ISOUROD (Homo sapiens)4145077; 4145077protein:decreased activity:liver (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Urod  (uroporphyrinogen decarboxylase)

Genes (Mus musculus)
Urod  (uroporphyrinogen decarboxylase)

Genes (Homo sapiens)
UROD  (uroporphyrinogen decarboxylase)


Additional Information