𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata

✍ Scribed by D. J. Viljoen; E. Cayanis; D. M. Becker; Dr. S. Kramer; B. Dawson; R. Bernstein

Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
352 KB
Volume
6
Category
Article
ISSN
0361-8609

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Ferrochelatase deficiency has been shown in both porphyria variegata (PV) and erythropoietic protoporphyria (EPP). It has been suggested that in PV there is a decrease in the enzyme, whereas in EPP the enzyme is unstable. In the present study ferrochelatase activity was measured in skin fibroblasts from three patients with PV and three normal subjects. The enzymatic activity in the patients with PV (17.5 Β± 4.5 pmoles heme formed per 10^7^ fibroblasts per hour) was 50% of that of the control group (31.0 Β± 3.2 pmoles heme formed per 10^7^ fibroblasts per hour). This supports the contention that the enzyme is deficient in PV and that an inactive ferrochelatase is the primary deficiency in this type of porphyria.

πŸ“œ SIMILAR VOLUMES

Sphingomyelinase activities in cultured
Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick disease
✍ Ryoji Minami; Yoshiki Matsuura; Fukumi Nakamura; Tooru Kudoh; Hideaki Sogawa; Ka πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 469 KB

Sphingomyelinase activity in cultured skin fibroblasts from a fetus affected with infantile-type Niemann-Pick disease was 0.5% of control activity; the activities in cells from two patients with adult-type disease (Cases 2 and 3) were 5.0% and 59.0%. Sphingomyelinase activiy was separated into three

Cathechol-O-methyltransferase activity i
Cathechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans
✍ Xandra O. Breakefield; Muriel Braverman; Donald Kay Riker; Earl L. Giller Jr. πŸ“‚ Article πŸ“… 1981 πŸ› John Wiley and Sons 🌐 English βš– 766 KB

## Abstract Fibroblasts provide a source of living cells that can be obtained easily from humans and used to evaluate inherited differences in the activities of enzymes important in neurotransmitter and drug metabolism. Here, we describe biochemical characteristics of catechol‐O‐methyltransferase (