Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
نویسندگان
چکیده
منابع مشابه
Homocystinuria due to cystathionine beta synthase deficiency.
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...
متن کاملHomocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency. The drug decreased the plasma concentration and urinary excretion of methionine and homocystine and the urinary excretion of homolanthionine and the homocysteine-cysteine mixed disulfide. Urinary cystine rose somewhat. Oral methionine tolerance tests before and...
متن کاملHomocysteine metabolism in endothelial cells of a patient homozygous for cystathionine beta-synthase (CS) deficiency.
Homocystinuria due to cystathionine beta-synthase (CS) deficiency is the most common inborn error of methionine metabolism. Patients with CS-deficiency have an extremely high risk of vascular disease. The underlying mechanism is still unsolved. Dysfunction of endothelial cells could be the trigger in the formation of atherosclerosis and thrombosis. Therefore, differences in cell function were s...
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1. Hepatic levels of cystathionine synthase and methionine-activating enzyme are significantly lower in rats fed a diet low in methionine and supplemented with cystine than in rats growing at the same rate while maintained on a diet adequate in methionine, with or without cystine supplementation. Cystathionase levels are also decreased, but to a smaller extent. Betaine-homocysteine methyltransf...
متن کاملHomocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis
Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVS...
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 44 10 شماره
صفحات -
تاریخ انتشار 1965