Enzyme Deficiencies in the Porphyrias

Kramer, S. D.; Becker, David M.; Viljoen, J. D.

doi:10.1111/j.1365-2141.1977.tb01016.x

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1979

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Cited by 11 publications

References 41 publications

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Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata

et al. 1979

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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 +/- 4.5 pmoles heme formed per 10(7) fibroblasts per hour) was 50% of that of the control group (31.0 +/- 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.

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Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata

et al. 1979

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Multiple genotypes, multiple phenotypes, and partial defects

Kark¹,

Becker²

1981

Muscle and Nerve

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In recent years, the following ideas have been expressed: (a) that all cases of a discrete, inherited neuromuscular syndrome should prove to be due to a single biochemical defect, (b) that any single biochemical defect should give rise only to one syndrome, and (c) that an enzymatic defect cannot give rise to a disease unless there is virtual absence of activity, that is, less than 5% or 10% of the normal value. We review evidence from research in neuromuscular, neurological, and other genetic diseases of humans that suggest the contrary. There are now examples of single clinical syndromes related to each of several defects, of defects of one biochemical reaction related to two or more distinct clinical syndromes, and of partial defects associated with disease in a way that suggests a causal relationship.

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Erythropoese

Remmele¹

1984

Pathologie

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Enzyme Deficiencies in the Porphyrias

Cited by 11 publications

References 41 publications

Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata

Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata

Multiple genotypes, multiple phenotypes, and partial defects

Erythropoese

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