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[Metabolic studies in brothers affected by alcaptonuria (ochronosis)].

Authors
  • Pugge, H R
  • Orozco, M
  • Toledo, A
  • Ripoll, J
  • Katz, J
  • Toledo, I
  • Pellanda, R
Type
Published Article
Journal
Medicina cutánea ibero-latino-americana
Publication Date
Jan 01, 1978
Volume
6
Issue
1
Pages
23–27
Identifiers
PMID: 384110
Source
Medline
License
Unknown

Abstract

The case of two brothers affected by alcaptonurie is reported. The activity of the homogenthisycasa enzyme has been determined by the material obtained through percutaneous biopsy. Concentrations of the aminoacids producing fenilalanina and thiroxina in their parents' blood have been investigated, the tests showing lack of liver enzyme and normal concentration of the amount of aminoacids in blood. Some aspects of skin lesion have been briefly reported and methods for treatment presented.

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