نتایج جستجو برای: homocystinuria
تعداد نتایج: 575 فیلتر نتایج به سال:
The importance of hyperhomocysteinemia in the pathogenesis of arteriosclerosis was first recognized by study of vascular pathology in children with homocystinuria caused by 2 different enzymatic abnormalities of homocysteine metabolism.1 Homocystinuria caused by deficiency of cystathionine synthase, a pyridoxal phosphate-dependent enzyme, is characterized by vascular abnormalities and frequent ...
The lens from a patient with homocystinuria was examined by scanning and transmission electron microscopy. A fringe of zonular remnants was found attached to the anterior lens capsule, and was observed to be composed of masses of short filaments in disarray, together with occasional bundles of normal-appearing zonular filaments. Although a pericapsular membrane (zonular lamella) was not observe...
conclusions in cases of unusual vascular lesions, metabolic diseases must be considered. in homocystinuria, early diagnosis and treatment are important. blood homocysteine levels can be returned to normal, and some complications can be prevented. introduction homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. homocystinuria can influenc...
Homocystinuria is a rare autosomal recessive genetic disease. It is caused by a deficiency in cystathionine-b-synthase leading to a defect in methionine metabolism. High levels of plasma homocysteine are associated with vascular injury via mechanisms of oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation,and disruption of normal procoagulant-...
We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare i...
Sardharwalla, I. B., Fowler, B., Robins, A. J., and Komrower, G. M. (1974). Archives of Disease in Childhood, 49, 553. Detection of heterozygotes for homocystinuria: study of sulphur-containing amino acids in plasma and urine after L-methionine loading. Twelve parents of patients with homocystinuria and 12 normal control subjects were given standard L-methionine loads. Determination of plasma c...
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