[Metabolic studies in brothers affected by alcaptonuria (ochronosis)].
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.
D000328:Adult; D006713:Homogentisic Acid / Q000032:analysis; D006801:Humans; D008297:Male; D009794:Ochronosis / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree
D006713:Homogentisic Acid
Estudios metabólicos en hermanos afectados de alcaptonuria (ocronosis).