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Dislocated Lenses and Homocystinuria

Dislocated Lenses and Homocystinuria This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables. Abstract The congenital occurrence of dislocated lenses in persons with involvement of other tissues in the body include Marchesani's syndrome, Marfan's syndrome, and now a biochemically discrete syndrome characterized by excretion of homocystine. This latter entity, homocystinuria, is a recent addition to the expanding list of syndromes in which a metabolic disease is found to be attributable to an enzymatic fault in the utilization of one or more amino acids. In this case the enzyme, cystathione synthetase, responsible for the condensation of homocystine and serine, is either absent or inadequate. Homocystine accumulates in the tissues and spills over in the urine. Its presence can be easily detected by the cyanido-nitroprusside test available in most routine chemistry laboratories. Aside from dislocated lenses, patients with homocystinuria have mental retardation, sparseness of hair, and an abnormal stickiness of platelets which makes them prone to pulmonary thromboembolism. [The significance of the latter became apparent recently http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Dislocated Lenses and Homocystinuria

Archives of Ophthalmology , Volume 74 (4) – Oct 1, 1965

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1965.00970040448002
Publisher site
See Article on Publisher Site

Abstract

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables. Abstract The congenital occurrence of dislocated lenses in persons with involvement of other tissues in the body include Marchesani's syndrome, Marfan's syndrome, and now a biochemically discrete syndrome characterized by excretion of homocystine. This latter entity, homocystinuria, is a recent addition to the expanding list of syndromes in which a metabolic disease is found to be attributable to an enzymatic fault in the utilization of one or more amino acids. In this case the enzyme, cystathione synthetase, responsible for the condensation of homocystine and serine, is either absent or inadequate. Homocystine accumulates in the tissues and spills over in the urine. Its presence can be easily detected by the cyanido-nitroprusside test available in most routine chemistry laboratories. Aside from dislocated lenses, patients with homocystinuria have mental retardation, sparseness of hair, and an abnormal stickiness of platelets which makes them prone to pulmonary thromboembolism. [The significance of the latter became apparent recently

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Oct 1, 1965

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