Ornithine Transcarbamylase (OTC) in White Blood Cells
نویسندگان
چکیده
منابع مشابه
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree.
Authors: A.S.B. Khoo , P. Balraj , A. Rachedi , C.N. Chin , and L. Volpi Affiliations: 1 Division of Molecular Pathology, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia; 2 Centre for Gene Analysis and Technology, Faculty of Life Science, National University of Malaysia, 43000 Bangi, Malaysia (Current Address: Department of Biochemistry, The Hong Kong University of Science and Tech...
متن کاملOrnithine Transcarbamylase Deficiency
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کاملAntepartum Ornithine Transcarbamylase Deficiency
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...
متن کامل[Ornithine transcarbamylase deficiency].
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کاملIncrease of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTCase, EC 2.1.3.3) a mitochondrial enzyme of the urea cycle catalyses the formation of citrulline from ornithine and carbamoyl phosphate. It has been purified from liver in 3 mammalian species: bovine [ 11, human [2] and rat [3,4] but not from mouse. We decided to purify mouse OTCase because the mouse is the only mammalian species in which two strains with an OTCase...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1980
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198012000-00022