Carnitine Palmitoyl Transferase II (CPTII) is a very important enzyme that helps with the oxidation of long-chain fatty acid to produce energy. Deficiency in CPTII will lead to energy deficiency in the case of fasting...Carnitine Palmitoyl Transferase II (CPTII) is a very important enzyme that helps with the oxidation of long-chain fatty acid to produce energy. Deficiency in CPTII will lead to energy deficiency in the case of fasting and the accumulation of the long chain fatty in the body. There are three types of CPT II deficiency, the myopathic form, the severe infantile hepatocardiomuscular form and the lethal neonatal form. They are all inherited as an autosomal recessive. Diagnosis of the CPTII are 1) tandem mass spectrometry (MS/MS) in adult form and 2) CPTII polymorphism (F352C), which is linked to reducing the activity of CPTII in infantile form [1]. Glucose is the primary management and medium-chain fatty acid is an alternative due to the bypass of the CPTII enzyme in the pathway. For the prevention of CPTII deficiency are to avoid long chain fatty acid (C12-fatty acid), fasting, prolonged exercise, known triggers, and certain medications such as anti-epileptics and general anesthesia. During the rhabdomyolysis and myoglobinuria attack, it is very important to maintain hydration to avoid acute renal failure. If, however, renal failure occurs, dialysis is recommended. We present a case of a 27-year-old African American woman with the significant past medical history of CPT II deficiency leading to recurrent rhabdomyolysis and myoglobinuria. Together with all the research studies from diagnosis to treatment of CPTII deficiency will help in clinical management of patients. And this case report will add to the existing case reports of patients who have CPTII deficiency in terms of how we diagnose, how we treat, and how we prevent symptoms from re-occurring.展开更多
克隆了乌骨鸡(BF2*SI)和珍珠鸡(BF2*NM)群主要组织相容性复合体I(MHC class I)和β微球蛋白(β2m)基因,分析了其分子特征与等位基因多态性。BF2*SI相互间氨基酸同源率为75.5%~93.9%,保留了人HLA-A2与抗原多肽结合的7个关键性氨基酸。BF2...克隆了乌骨鸡(BF2*SI)和珍珠鸡(BF2*NM)群主要组织相容性复合体I(MHC class I)和β微球蛋白(β2m)基因,分析了其分子特征与等位基因多态性。BF2*SI相互间氨基酸同源率为75.5%~93.9%,保留了人HLA-A2与抗原多肽结合的7个关键性氨基酸。BF2*NM相互间氨基酸同源率为81.1%~98.5%,保留了人HLA-A2与抗原多肽结合的6个关键性氨基酸。BF2*SI在α1和α2区(抗原多肽结合区,PBD)有24个高置换率位点,置换率最高的为69位和9位。BF2*NM在PBD区共有6个高置换率位点。BF2*SIPBD发生氨基酸置换的位点数大于来航鸡BF2,BF2*NMPBD区氨基酸置换的位点数和置换率则远远小于来航鸡BF2。根据同源率,将BF2*SIα1区分为4类,α2区分为3类,α3区分为3类,并由此聚类为5个系谱(A^E)。将BF2*NMα1区分为3类,α2区分为3类,α3区分为1类,并由此聚类为3个系谱(A^C)。比较发现BF2*03SI、BF2*04SI和BF2*05NM的α1区与抗马立克氏病的BF2*21同源率最高(分别为86.4%、86.4%和87.5%);BF2*05SI和BF2*05NM的α2区与BF2*21同源率最高(均为93.4%)。另外,根据成熟肽区的氨基酸序列可将乌骨、珍珠鸡β2m分为两类,第一类和来航鸡β2m(M84767)氨基酸序列完全相同,第二类与第一类相比,氨基酸序列相互间同源率为85.7%。结果揭示了各类鸡的MHCⅠ和β2m基因具有品种分子特征。展开更多
文摘Carnitine Palmitoyl Transferase II (CPTII) is a very important enzyme that helps with the oxidation of long-chain fatty acid to produce energy. Deficiency in CPTII will lead to energy deficiency in the case of fasting and the accumulation of the long chain fatty in the body. There are three types of CPT II deficiency, the myopathic form, the severe infantile hepatocardiomuscular form and the lethal neonatal form. They are all inherited as an autosomal recessive. Diagnosis of the CPTII are 1) tandem mass spectrometry (MS/MS) in adult form and 2) CPTII polymorphism (F352C), which is linked to reducing the activity of CPTII in infantile form [1]. Glucose is the primary management and medium-chain fatty acid is an alternative due to the bypass of the CPTII enzyme in the pathway. For the prevention of CPTII deficiency are to avoid long chain fatty acid (C12-fatty acid), fasting, prolonged exercise, known triggers, and certain medications such as anti-epileptics and general anesthesia. During the rhabdomyolysis and myoglobinuria attack, it is very important to maintain hydration to avoid acute renal failure. If, however, renal failure occurs, dialysis is recommended. We present a case of a 27-year-old African American woman with the significant past medical history of CPT II deficiency leading to recurrent rhabdomyolysis and myoglobinuria. Together with all the research studies from diagnosis to treatment of CPTII deficiency will help in clinical management of patients. And this case report will add to the existing case reports of patients who have CPTII deficiency in terms of how we diagnose, how we treat, and how we prevent symptoms from re-occurring.
文摘克隆了乌骨鸡(BF2*SI)和珍珠鸡(BF2*NM)群主要组织相容性复合体I(MHC class I)和β微球蛋白(β2m)基因,分析了其分子特征与等位基因多态性。BF2*SI相互间氨基酸同源率为75.5%~93.9%,保留了人HLA-A2与抗原多肽结合的7个关键性氨基酸。BF2*NM相互间氨基酸同源率为81.1%~98.5%,保留了人HLA-A2与抗原多肽结合的6个关键性氨基酸。BF2*SI在α1和α2区(抗原多肽结合区,PBD)有24个高置换率位点,置换率最高的为69位和9位。BF2*NM在PBD区共有6个高置换率位点。BF2*SIPBD发生氨基酸置换的位点数大于来航鸡BF2,BF2*NMPBD区氨基酸置换的位点数和置换率则远远小于来航鸡BF2。根据同源率,将BF2*SIα1区分为4类,α2区分为3类,α3区分为3类,并由此聚类为5个系谱(A^E)。将BF2*NMα1区分为3类,α2区分为3类,α3区分为1类,并由此聚类为3个系谱(A^C)。比较发现BF2*03SI、BF2*04SI和BF2*05NM的α1区与抗马立克氏病的BF2*21同源率最高(分别为86.4%、86.4%和87.5%);BF2*05SI和BF2*05NM的α2区与BF2*21同源率最高(均为93.4%)。另外,根据成熟肽区的氨基酸序列可将乌骨、珍珠鸡β2m分为两类,第一类和来航鸡β2m(M84767)氨基酸序列完全相同,第二类与第一类相比,氨基酸序列相互间同源率为85.7%。结果揭示了各类鸡的MHCⅠ和β2m基因具有品种分子特征。
