1148 MITOCHONDRIAL ABNORMALITISS IN A MALE WITH ORNITHINE TRANSCARBANILASE DEFICIENCY (CTC)
نویسندگان
چکیده
منابع مشابه
Ornithine metabolism in male and female rat kidney: mitochondrial expression of ornithine aminotransferase and arginase II.
In the kidney, L-ornithine is reabsorbed along the proximal convoluted tubule (PCT), transported by basolateral carriers, and produced by arginase II (AII). Here, the renal metabolic fate of L-ornithine was analyzed in male and female rats. Kidneys and renal zones were dissected and used for Western blot analysis, immunofluorescence, and electron microscopic studies. Ornithine aminotransferase ...
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ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...
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Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-ol...
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Congenital ornithine transcarbamylase deficiency (OTCD, OMIM 311250, Xp21.1) in humans results in hyperammonaemia with subsequent neurological symptoms including hypotonia, seizures and mental retardation. At the age of 3 years a hyperkinetic-hyperactive behaviour disorder of unknown origin was diagnosed in our female patient. The girl, ultimately diagnosed as having OTCD presented at the age o...
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Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Alt...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-01174