| Literature DB >> 7753441 |
C Marsile1, C Menozzi, C Menozzi.
Abstract
Alkaptonuria is a rare, hereditary, metabolic disease in which homogentisic acid, an intermediary product in the metabolism of phenylalanine and tyrosine, cannot be further metabolized. The metabolic defect causes a characteristic triad of homogentisic aciduria, ochronosis, and arthritis. The cause of this disease is a constitutional lack of the enzyme homogentisic acid oxidase. The condition is inherited as an autosomal recessive disease. The ochronotic arthritis affects mainly male subjects after fourty. Authors present a case of a 60 years old man suffering from a generalized ochronotic arthritis since 1976. From 1992 summer to the beginning of 1993 the patient developed a progressive weakness in the lower limbs associated with thoracic back pain and subsequently a spastic paraparesis. These symptoms were related to a vertebral compression due to D4-D5 pathologic fracture. In spite of a decompressive operation the neurologic symptoms didn't improve.Entities:
Mesh:
Year: 1995 PMID: 7753441
Source DB: PubMed Journal: Minerva Med ISSN: 0026-4806 Impact factor: 4.806