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Pathology Of Homocystinuria

K. Mccully
Published 1997 · Medicine

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The accelerated growth observed in some children with homocystinuria is attributed to the growth hormone-like and the insulin-like growth factor activities of homocysteine and homocysteic acid. In addition, homocysteine interferes with intramolecular cross-linkages of collagen, probably by reaction with lysyl aldehyde, causing abnormalities of skin, synovium, bone, and other connective tissues. The dislocation of ocular lenses in homocystinuria is caused by granular degeneration of zonular fibers. Deposition of fat within hepatocytes in homocystinuria is accompanied by ultrastructural abnormalities of mitochondria. Homocysteine thiolactone causes aggregation of low-density lipoprotein and converts thioretinaco to thioco, inhibiting oxidative metabolism, which may explain increased hepatic cholesterol and triglyceride synthesis. Atrophic, metaplastic, and dysplastic changes within gastric mucosa are attributed to the effects of homocysteine on sulfomucin, nucleo-protein, and keratin synthesis. Hyperhomocysteinemia produces fibrous arteriosclerotic plaques by a direct effect on the cells and tissues of arteries and arterioles in homocystinuria caused by the three principal types of enzyme deficiency. In addition, thrombosis of arteries and veins increases the risk of death from vascular disease by causing infarcts of brain, heart, kidneys, lung, and other organs. The discovery of the atherogenic effect of homocysteine on arteries in homocystinuria led to development of the homocysteine theory of arteriosclerosis.
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