(redirected from Ornithine transcarbamylase deficiency)Also found in: Thesaurus, Medical, Legal, Financial, Acronyms, Encyclopedia, Wikipedia. de·fi·cien·cy (dĭ-fĭsh′ən-sē) n. pl. de·fi·cien·cies 1. The quality or condition of being deficient; incompleteness or inadequacy. ...
ornithine transcarbamylase deficiencyTwo infants, one male and one female, with elevated serum ammonia levels, were shown, based on urine organic acid analysis and DNA studies, to have ornithine transcarbamylase (OTC) deficiency. OTC deficiency is one of the most common urea cycle disorders. ...
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 ...
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...
The meaning of ORNITHINE is a crystalline amino acid C5H12N2O2 that functions especially in urea production as a carrier by undergoing conversion to citrulline and then arginine in reaction with ammonia and carbon dioxide followed by recovery along with
Ornithine transcarbamylase Ornithine transcarbamoylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme that catalyzes the reaction between carbamoyl phosphate (CP) and ornithine (Orn) to form citrulline (Cit) and phosphate (Pi). In plants and microbes, OTC is involved in arginine (...
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...
(redirected fromOrnithine transcarbamylase) Thesaurus Medical Acronyms Encyclopedia Wikipedia Related to Ornithine transcarbamylase:urea cycle,arginase or·ni·thine (ôr′nə-thēn′) n. An amino acid, C5H12N2O2, not found in proteins, formed by hydrolyzing arginine and important in the formatio...
ornithine transcarbamylase deficiency; pediatric anesthesia; general anesthesia Summary Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder associated with potentially fatal episodes of hyperammonemia. Children with OTCD often require anesthesia. There is insufficient...
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;