Carrier Detection of Pyruvate Carboxylase Deficiency in Fibroblasts and Lymphocytes
نویسندگان
چکیده
منابع مشابه
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism. Its deficiency causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia and neurological dysfunction at an ...
متن کاملPyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American ty...
متن کاملInhibitors of Pyruvate Carboxylase.
This review aims to discuss the varied types of inhibitors of biotin-dependent carboxylases, with an emphasis on the inhibitors of pyruvate carboxylase. Some of these inhibitors are physiologically relevant, in that they provide ways of regulating the cellular activities of the enzymes e.g. aspartate and prohibitin inhibition of pyruvate carboxylase. Most of the inhibitors that will be discusse...
متن کاملinvestigation of single-user and multi-user detection methods in mc-cdma systems and comparison of their performances
در این پایان نامه به بررسی روش های آشکارسازی در سیستم های mc-cdma می پردازیم. با توجه به ماهیت آشکارسازی در این سیستم ها، تکنیک های آشکارسازی را می توان به دو دسته ی اصلی تقسیم نمود: آشکارسازی سیگنال ارسالی یک کاربر مطلوب بدون در نظر گرفتن اطلاعاتی در مورد سایر کاربران تداخل کننده که از آن ها به عنوان آشکارساز های تک کاربره یاد می شود و همچنین آشکارسازی سیگنال ارسالی همه ی کاربران فعال موجود در...
Properties and function of yeast pyruvate carboxylase.
Cannata and Stoppani (1, 2) found that bakers’ yeast contains an adenosine diphosphate-dependent phosphoenolpyruvate carboxykinase, and they ascribed the essential physiological role of oxaloacetate synthesis to it. Doubts concerning their interpretation arose, however, when it was revealed (3, 4) that cellfree preparations of the same microorganism could catalyze the direct carboxylation of py...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1979
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197910000-00003