ALCAPTONURIA is a disease rarely encountered in a general hospital. We have had opportunity recently to observe a patient with alcaptonuria and secondary ochronosis. Our patient came from a large family of siblings, and it was possible to study 42 of 46 persons in four generations of his family, in which four other cases of alcaptonuria and ochronosis were found.
Before discussing these disorders it may be well to clarify our understanding of the terminology.
Alcaptonuria is a hereditary metabolic disease in which the individual is lacking in a system, presumably enzymatic,1 required to break down homogentisic acid. This is one of the intermediate products of tyrosine metabolism, and hence the disease is characterized by the urinary excretion of abnormally large quantities of this acid.
Ochronosis* is a disordered state in which there is a brown or black pigment deposit in certain tissues of the body, especially cartilage. In
BLACK RL, LOWNEY JF, DUFFY PM. ALCAPTONURIA AND OCHRONOSIS: Report of Five Cases Occurring in an American Family. AMA Arch Intern Med. 1954;93(1):75–86. doi:10.1001/archinte.1954.00240250085007
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