Ornithine transcarbamylase (OTC) deficiency (OMIM #311250) is the most common urea cycle defect. The enzyme catalyzes the condensation of carbamyl phosphate and ornithine to form citrulline. Deficiency of OTC (EC2.1.3.3) results in accumulation of carbamyl phosphate, which enters the cytoplasm and...
Ornithine transcarbamylase (OTC) deficiency is the most common type. The syndrome results from a deficiency of the mitochondrial enzyme OTC which catalyses the conversion of ornithine and carbamoyl phosphate to citrulline. It shows X-linked inheritance and typically remains asymptomatic until late ...
In mice an OTC deficiency mutation is responsible for the spf (sparse fur) phenotype. This single gene metabolic defect may be corrected by somatic gene therapy. Unfortunately, one of the initial attempts using a very high dose of adenoviral vector (6 脳 10 14 particles/kg) ended in an ...
colour vision deficiency congenital abnormality References in periodicals archive ? Improved molecular diagnostics for ornithine transcarbamylase deficiency.Am J Hum Genet 1991;48:212-22. Successful Management of Ornithine Transcarbamylase Defciency Presenting with Reversible Metabolic Stroke in a Child Abbre...
2.3.1 Ornithine transcarbamylase deficiency Ornithine transcarbamylase deficiency (OTC) is an X chromosome-linked disorder that interferes in the initial two steps of the urea cycle (see paragraph III-4 and Table 1). There have been three case reports of acquired OTC deficiency following LT from...
鸟氨酸氨甲酰基转移酶缺陷症尿液标志物的气相色谱-质谱法分析 Analysis of urinary markers for ornithine transcarbamylase deficiency by gas chromatography-mass spectrometry;
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again This dramatic case stumped physicians until the woman's blood revealed a telltale high level of ammonia, a diagnostic clue suggesting a rare, inherited disorder called ornithine carbamoyltransferase deficiency. ...
ornithine transcarbamylase如何读 [ˈɔ:niθi:n ˌtrænsˌkɑ:ˈbæmileis] ornithine transcarbamylase是什么意思 释义 [医]鸟氨酸转氨甲酰酶,鸟氨酸转氨酶; ornithine transcarbamylase英英释义 Ornithine transcarbamylase Ornithine transcarbamoylase (OTC) (also called ornithine carbamoyltransferase...
Ornithine transcarbamylase (OTC) deficiency:A rare metabolic disorder,OTCis one of theurea-cycle disorders. The urea cycle is a series of five liver enzymes that help rid the body ofammonia, a toxic breakdown product of protein. When one of these enzymes is missing or deficient, ammonia accu...
Ornithine Transcarbamylase Chicken ornithine transcarbamylase: purification and some properties Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase from Streptococcus faecalis and bovine liver. I. Isolation and subunit structure. ...