Familial and sporadic porphyria cutanea: two different diseases

Familial and sporadic porphyria cutanea: two different diseases

The erythrocyte uroporphyrinogen decarboxylase activity is decreased to 50% of the normal level in patients with familial type of porphyria cutanea symptomatica (2.61 ± 0.32 vs 4.78 ± 0.88). The enzyme activity is not decreased in patients with sporadic porphyria cutanea symptomatica (5.07 ± 0.5)....

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Veröffentlicht in:International journal of biochemistry 1978, Vol.9 (12), p.927-931
Hauptverfasser: De Verneuil, H., Nordmann, Y., Phung, N., Grandchamp, B., Aitken, G., Grelier, M., Noire, J.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Child
Erythrocytes - enzymology
Female
Genetic Carrier Screening
Humans
Male
Pedigree
Porphyrias - enzymology
Porphyrias - genetics
Substrate Specificity
Uroporphyrinogen Decarboxylase - blood
Uroporphyrinogen Decarboxylase - deficiency
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Zusammenfassung:The erythrocyte uroporphyrinogen decarboxylase activity is decreased to 50% of the normal level in patients with familial type of porphyria cutanea symptomatica (2.61 ± 0.32 vs 4.78 ± 0.88). The enzyme activity is not decreased in patients with sporadic porphyria cutanea symptomatica (5.07 ± 0.5).
ISSN:0020-711X
DOI:10.1016/0020-711X(78)90072-1