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Case Report: carnitine Palmitoyl Transferase II (CPT II) Deficiency

Open Journal of Internal Medicine 2024年第1期14卷 93-101页

作者： Kathy Po Marius Chivu Edwin Rosas Balpreet Kaur Department of Internal Medicine Saint James School of Medicine The Quarter Anguilla Department of Internal Medicine Medicine at University of Chicago Chicago USA Department of Internal Medicine Medical College of Wisconsin Wisconsin USA

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.

关键词： carnitine Palmitoyl Transferase II (CPTII) Mitochondria Long Chain Fatty Acid Medium Chain Fatty Acid carnitine carnitine Palmitoyl Transferase I (CPTI) Acyl-carnitine Beta-Oxidation Rhabdomyolysis Myoglobinuria Renal Failure Hypoketotic Hypoglycemia

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Mitochondrial carnitine palmitoyltransferase-Ⅱ dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis

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World Journal of Gastroenterology 2023年第12期29卷 1765-1778页

作者： Min Yao Ping Zhou Yan-Yan Qin Li Wang Deng-Fu Yao Department of Medical Immunology Medical School of Nantong University&Research Center of Clinical MedicineAffiliated Hospital of Nantong UniversityNantong 226001Jiangsu ProvinceChina Department of Medical Immunology Medical School of Nantong UniversityNantong 226001Jiangsu ProvinceChina Research Center for Intelligent Information Technology Nantong UniversityNantong 226019Jiangsu ProvinceChina Research Center of Clinical Medicine Affiliated Hospital of Nantong UniversityNantong 226001Jiangsu ProvinceChina

Nonalcoholic fatty liver disease(NAFLD)or metabolic-associated fatty liver disease has been characterized by the lipid accumulation with injury of hepatocytes and has become one of the most common chronic liver diseases in the world.The complex mechanisms of NAFLD formation are still under identification.carnitine palmitoyltransferase-Ⅱ(CPT-Ⅱ)on inner mitochondrial membrane(IMM)regulates long chain fatty acidβ-oxidation,and its abnormality has had more and more attention paid to it by basic and clinical research in NAFLD.The sequences of its peptide chain and DNA nucleotides have been identified,and the catalytic activity of CPT-Ⅱ is affected on its gene mutations,deficiency,enzymatic thermal instability,circulating carnitine level and so on.Recently,the CPT-Ⅱ dysfunction has been discovered in models of liver lipid accumulation.Meanwhile,the malignant transformation of hepatocyte-related CD44^(+) stem T cell activation,high levels of tumor-related biomarkers(AFP,GPC3)and abnormal activation of Wnt3a expression as a key signal molecule of the Wnt/β-catenin pathway run parallel to the alterations of hepatocyte pathology.This review focuses on some of the progress of CPT-Ⅱ inactivity on IMM with liver fatty accumulation as a possible novel pathogenesis for NAFLD in hepatocarcinogenesis.

关键词： carnitine palmitoyl transferase-II Nonalcoholic fatty liver disease Fatty acidβ-oxidation carnitine Hepatocyte malignant transformation Mitochondrial membrane

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A study of the ameliorating effects of carnitine on hepatic steatosis induced by total parenteral nutrition in rats

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World Journal of Gastroenterology 1999年第4期5卷 40-43页

作者： LIANG Li Jian, YIN Xiao Yu, LUO Shi Min, ZHENG Jin Fang, LU Ming De and HUANG Jie Fu

ＩＮＴＲＯＤＵＣＴＩＯＮＬｏｎｇｔｅｒｍｔｏｔａｌｐａｒｅｎｔｅｒａｌｎｕｔｒｉｔｉｏｎ（ＴＰＮ）ｃａｎｆｒｅｑｕｅｎｔｌｙｌｅａｄｔｏｔｈｅｄｅｖｅｌｏｐｍｅｎｔｏｆｈｅｐａｔｉｃｓｔｅａｔｏｓｉｓ．Ａｌｔｈｏｕ... 详细信息

ＩＮＴＲＯＤＵＣＴＩＯＮＬｏｎｇｔｅｒｍｔｏｔａｌｐａｒｅｎｔｅｒａｌｎｕｔｒｉｔｉｏｎ（ＴＰＮ）ｃａｎｆｒｅｑｕｅｎｔｌｙｌｅａｄｔｏｔｈｅｄｅｖｅｌｏｐｍｅｎｔｏｆｈｅｐａｔｉｃｓｔｅａｔｏｓｉｓ．Ａｌｔｈｏｕｇｈｉｔｓｉｎｃｉｄｅｎｃｅｈａｓ...

关键词： carnitine hepatic steatosis total parenteral nutrition rats

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Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

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World Journal of Hepatology 2022年第1期14卷 180-194页

作者： Aathira Ravindranath Moinak Sen Sarma Division of Pediatric Gastroenterology Institute of Gastrointestinal SciencesApollo BGS HospitalsMysore 570023KarnatakaIndia Pediatric Gastroenterology Sanjay Gandhi Postgraduate Institute of Medical SciencesLucknow 226014Uttar PradeshIndia

Fatty acid oxidation defects(FAOD)and urea cycle defects(UCD)are among the most common metabolic liver diseases.Management of these disorders is dotted with challenges as the strategies differ based on the type and severity of the defect.In those with FAOD the cornerstone of management is avoiding hypoglycemia which in turn prevents the triggering of fatty acid oxidation.In this review,we discuss the role of carnitine supplementation,dietary interventions,newer therapies like triheptanoin,long-term treatment and approach to positive newborn screening.In UCD the general goal is to avoid excessive protein intake and indigenous protein breakdown.However,one size does not fit all and striking the right balance between avoiding hyperammonemia and preventing deficiencies of essential nutrients is a formidable task.Practical issues during the acute presentation including differential diagnosis of hyperammonemia,dietary dilemmas,the role of liver transplantation,management of the asymptomatic individual and monitoring are described in detail.A multi-disciplinary team consisting of hepatologists,metabolic specialists and dieticians is required for optimum management and improvement in quality of life for these patients.

关键词： Mitochondrial hepatopathy Metabolic liver disease Liver transplantation Hyperammonemia Hypoglycemia carnitine

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carnitine Deficiency and Improvement of Muscle Cramp by Administration of carnitine in Patients with Liver Cirrhosis

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Open Journal of Gastroenterology 2014年第5期4卷 242-248页

作者： Naoki Hotta Department of Internal Medicine Division of Hepatology Masuko Memorial Hospital Aichi Japan

Aim: We measured carnitine levels in patients with carnitine including dialysis patients, and examined whether administration of L-carnitine improved muscle symptoms. Methods: We measured carnitine levels in 27 patients with liver cirrhosis who were receiving treatment in our hospital, and administered L-carnitine (600 mg - 1800 mg) to patients having muscle cramps for approximately one month and examined the presence/absence of the symptom. We measured carnitine concentration before and after dialysis, before dialysis after the administration to eight dialysis patients, before and after the administration to 19 nondialytic patients. Results: The total carnitine levels before the dialysis of dialysis patients were an average of 42.2 μmol/L and fell to 17.7 μmol/L after more dialysis, but it was increased to 155 μmol/L after the administration of L-carnitine. In the nondialytic patients, the total carnitine levels were significantly increased from 71.7 μmol/L to 101.7 μmol/L after the administration of L-carnitine (P = 0.038). For symptomatic patients, significant improvement of muscle clamps was observed in the L-carnitine administrated group when compared with the non-administrated group (P = 0.0002). Conclusions: Total carnitine levels were low even before dialysis in the dialysis patients with liver cirrhosis in particular and they further decreased after the dialysis. Administration of L-carnitine increased the total carnitine levels and improved the symptom. Based on these results, we conclude that L-carnitine is useful for carnitine deficiency in patients with liver cirrhosis.

关键词： carnitine Liver Cirrhosis Dialysis Patient

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Autism and carnitine: A possible link

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World Journal of Biological Chemistry 2019年第1期10卷 7-16页

作者： Caroline Demarquoy Jean Demarquoy DATSA 71 - Foyer Marie-José Marchand Université de Bourgogne-Agrosup Dijon UMR PAM

Patients with autism spectrum disorders(ASD) present deficits in social interactions and communication, they also show limited and stereotypical patterns of behaviors and interests. The pathophysiological bases of ASD have not been defined yet. Many factors seem to be involved in the onset of this disorder. These include genetic and environmental factors, but autism is not linked to a single origin, only. Autism onset can be connected with various factors such as metabolic disorders: including carnitine deficiency. carnitine is a derivative of two amino acid lysine and methionine. carnitine is a cofactor for a large family of enzymes: the carnitine acyltransferases. Through their action these enzymes(and L-carnitine) are involved in energy production and metabolic homeostasis. Some people with autism(less than 20%) seem to have L-carnitine metabolism disorders and for these patients, a dietary supplementation with Lcarnitine is beneficial. This review summarizes the available information on this topic.

关键词： Autism carnitine Neurodevelopmental Metabolism Pathophysiological bases

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L-carnitine protects C2C12 cells against mitochondrial superoxide overproduction and cell death

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World Journal of Biological Chemistry 2017年第1期8卷 86-94页

作者： Francoise Le Borgne Gaetan Ravaut Arnaud Bernard Jean Demarquoy Universitede Bourgogne-UFR SVTE Facultedes Science Gabriel

AIM To identify and characterize the protective effect that L-carnitine exerted against an oxidative stress in C2C12 cells.METHODS Myoblastic C2C12 cells were treated with menadione, a vitamin K analog that engenders oxidative stress, and the protective effect of L-carnitine(a nutrient involved in fatty acid metabolism and the control of the oxidative process), was assessed by monitoring various parameters related to the oxidative stress, autophagy and cell death. RESULTS Associated with its physiological function, a muscle cell metabolism is highly dependent on oxygen and may produce reactive oxygen species(ROS), especially under pathological conditions. High levels of ROS are known to induce injuries in cell structure as they interact at many levels in cell function. In C2C12 cells, a treatment with menadione induced a loss of transmembrane mitochondrial potential, an increase in mitochondrial production of ROS; it also induces autophagy and was able to provoke cell death. Pre-treatment of the cells with L-carnitine reduced ROS production, diminished autophagy and protected C2C12 cells against menadione-induced deleterious effects. CONCLUSION In conclusion, L-carnitine limits the oxidative stress in these cells and prevents cell death.

关键词： Superoxide anions Mitochondria Reactive Autophagy Muscle carnitine Oxygen species Cell death

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Quality Evaluation of carnitine for Proper Use of Supplement

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Pharmacology & Pharmacy 2021年第2期12卷 55-62页

作者： Yuka Miyachi Chika Nakayama Taeyuki Oshima College of Pharmacy Kinjo Gakuin University Nagoya Japan Faculty of Pharmacy Gifu University of Medical Science Kani Japan

In recent years, consumers are becoming more health-conscious. Supplements are becoming popular as they can be purchased easily. In Japan, the “Food with Function Claims” system began in 2015;the market for supplements is expected to continue to expand. However, the use of some supplements has not been supported with sufficient scientific evidence;some products have even caused health problems. In addition, consumers may not be able to make correct decisions based on the information from the Internet. Unlike medicine, the instruction on the usage of supplements is not precise. Therefore, improving the quality of the information on the supplements will become more necessary in the future. This study aims to improve the quality of the information on supplements by surveying the disintegration and dissolution behavior of the carnitine-containing supplements and evaluated their quality. The products tested here were supplements containing commercial carnitine. Disintegration test and dissolution test were conducted according to the Japanese Pharmacopoeia. Carnitine was quantified by high-performance liquid chromatography. The disintegration tests revealed that the products had different disintegration times, varying from 35 to 100 minutes;some products took more than 5 hours to disintegrate. Thus, some products had a slow rise in their dissolution rate. These results suggest that the carnitine-containing supplements used in this study may affect the absorption process. Therefore, in the case of oral administration, the expected effect might not be achieved depending on the product.

关键词： Supplement Disintegration Test Dissolution Test carnitine

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Diabetic Cardiovascular Risk and carnitine Deficiency <br/>—carnitine Deficiency in Clinical Diabetes Mellitus

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Journal of Diabetes Mellitus 2014年第3期4卷 202-208页

作者： John I. Malone Michael A. Malone Anthony D. Morrison Charlotte Heart and Vascular Institute Port Charlotte FL USA Department of Internal Medicine The University of South Florida Morsani College of Medicine Tampa FL USA

Background: Type 1 diabetes mellitus increases the risk of coronary heart disease. The Pittsburgh IDDM morbidity and mortality study reported greater than 10 fold coronary heart disease mortality compared with US national data?[1]. Adults with diabetes have heart disease death rates 2 to 4 times higher than adults without diabetes [2]. Diabetic cardiomyopathy explains much of this survival difference and carnitine deficiency is a cause of cardiomyopathy. Research Design and Methods: Adult subjects (40) with type 1 diabetes mellitus were seen for a routine annual visit having no clinical complaints. Fasting serum samples were collected for annual chemistries and the measurement of carnitine. Results: The mean total (40.8 ± 8.8) [40 - 80 nmol/ml] and free (32.9 ± 7.9) [30 - 60 nmol/ml] carnitine levels for this group included 43% low total and 28% low free carnitine. The mean esterified/free (E/F) carnitine ratio (0.25 ± 0.09) for this group was elevated indicating carnitine insufficiency. Conclusions: Fatty acids are the primary energy source for diabetic heart muscle, and carnitine is essential for intracellular fatty acid transport and ATP production. Therefore, mild carnitine deficiency can compromise fatty acid energy production in a failing heart. carnitine deficiency in subjects at high risk for cardiovascular failure is a possible unrecognized reason for the 4 fold increased death rate in patients with type 1 diabetes. Supplementation with oral carnitine could reduce that increased risk of heart failure, in patients with type 1 diabetes. Intravenous carnitine may be life saving when managing acute cardiac failure in patients with diabetes mellitus. Normal carnitine levels in patients with type 1 diabetes may provide a biochemical environment that prevents the long recognized idiopathic heart failure that occurs in insulin requiring diabetics as first reported in the 1974 Framingham Study.

关键词： Type 1 Diabetes Mellitus Cardiovascular Disease Heart Failure Reduced ATP carnitine Deficiency

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carnitine/OCTN2在奥氮平致脂代谢紊乱中的作用及其机制

Carnitine/OCTN2在奥氮平致脂代谢紊乱中的作用及其机制

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作者：岳琴西南大学

学位级别：硕士

背景:精神分裂症是最严重的精神疾病之一,影响了全球约2100万人口,为患者家庭及社会带来沉重负担。奥氮平（Ola）是用于治疗精神分裂症的临床一线药物,但Ola的长期使用伴随着代谢性副反应的发生,加重II型糖尿病及心血管疾病的患病风险,... 详细信息

背景:精神分裂症是最严重的精神疾病之一,影响了全球约2100万人口,为患者家庭及社会带来沉重负担。奥氮平（Ola）是用于治疗精神分裂症的临床一线药物,但Ola的长期使用伴随着代谢性副反应的发生,加重II型糖尿病及心血管疾病的患病风险,降低患者服药依从性,为患者的长期治疗带来负面影响。现阶段Ola介导代谢性副反应的机制还未完全明确。脂代谢紊乱是Ola介导代谢副反应的常见形式,表现为血脂异常、体重增加甚至肥胖。脂肪酸氧化在脂质代谢中有着至关重要的作用,已有研究表明,二代抗精神病药物会造成线粒体脂肪酸β氧化障碍,并且此过程与肉碱（carnitine）含量下降相关。肉碱是脂肪酸氧化的关键载体,机体肉碱的低水平可能抑制脂肪酸氧化,最终导致脂代谢紊乱;而新型有机阳离子转运体-2（OCTN2）作为唯一的高亲和性肉碱转运体,是维持机体肉碱平衡的关键因子,但现阶段还尚不清楚carnitine/OCTN2在Ola介导脂代谢紊乱中的作用以及具体的调控机制。目的:本实验利用动物及细胞实验,探究carnitine/OCTN2在奥氮平介导的脂代谢紊乱中的作用及其调控机制,以期为解决临床上奥氮平介导脂代谢紊乱的问题提供一定的理论基础。方法:1.SD大鼠主动摄食含0、0.25 mg/kg、0.5 mg/kg、1.0 mg/kg及2.0 mg/kg奥氮平糖丸14天,过程中监测体重变化;给药结束后检测脂肪重量及TG、TC、FFA等生化指标;油红O染色检测肝脏组织脂质堆积情况;HE染色检测腹腔内白色脂肪组织细胞的大小情况;WB检测肝脏组织OCTN2蛋白表达量。2.Elisa法检测血清及肝脏肉碱含量、肝脏β氧化产物β-HB含量;WB及qPCR用于检测肾脏、肝脏及小肠组织中OCTN2转录及翻译水平。3.SD大鼠口服空白糖丸、Ola（1.0 mg/kg）糖丸、L-carnitine（350 mg/kg）糖丸及Ola联合L-carnitine糖丸28天,过程中监测SD大鼠体重、摄食、饮水情况;动物处理后检测血清及肝脏TG、TC、LDL、HDL及FFA等生化指标含量变化;以脏器指数及肝脏HE染色反映药物对组织的病理损害;检测肉碱含量及肝脏β氧化产物β-HB含量变化;免疫组化（IHC）检测小肠中OCTN2蛋白表达量变化。4.Ola（0/2.5μM/5μM/10μM）作用于肠细胞（Caco2）24 h后,通过免疫荧光（IF）检测Ola对Caco2中OCTN2表达量的影响;构建人-Octn2过表达及敲降质粒,质粒转染进Caco2后,通过WB及qPCR实验验证OCTN2表达情况,通过肉碱摄取实验探究细胞摄取肉碱能力的改变。5.检测肠组织中PPARγ/PPARα的蛋白表达情况;Ola作用Caco2细胞24 h后,通过IF实验检测细胞中PPARγ的蛋白表达情况;WB检测过表达Pparγ细胞中OCTN2表达量的改变;最后共转染过表达Pparγ/Pparα质粒及PGL3 BasicOCTN2（PPRE）质粒进293T细胞后,通过双荧光素酶检测试剂盒检测的信号值来评价PPARγ/PPARα与OCTN2（PPRE）的结合情况及Ola对其结合能力的影响。结果:1.不同剂量奥氮平对SD大鼠脂代谢的影响与空白组相比,给予Ola后,各剂量组SD大鼠体重增量发生变化,其中1.0mg/kg剂量组体重累积增量显著增加（27.8±1.3 g vs.19.2±2.3 g,p＜0.01）,且腹腔内脂肪显著增多;1.0 mg/kg及2.0 mg/kg剂量组肝脏FFA、血清TG含量、肝脏脂滴面积及腹部脂肪细胞直径显著升高;所有剂量组血清TC含量均显著增加;此外,Ola给药后,肝脏组织中OCTN2（肉碱转运蛋白）的蛋白表达量出现剂量下调。2.奥氮平对carnitine/OCTN2及肝脏β氧化的影响与空白组相比,Ola给药后血清肉碱含量显著下降（20.33±6.00μmol/L vs.30.36±5.71μmol/L,p＜0.01）,肝脏肉碱积累量也出现显著下降（31.04±4.87μmol/L vs.39.63±2.92μmol/L,p＜0.01）,肝脏中β氧化产物（β-HB）含量显著下降（p＜0.01）。Ola给药处理后,与空白组相比,肾脏组织中OCTN2表达量没有明显改变;肝脏中OCTN2表达水平下降,但统计结果不具有显著性;小肠组织中OCTN2转录及翻译水平极显著地下调（p＜0.001）。3.奥氮平联合L-carnitine实验与对照组相比,Ola组大鼠体重增加（体重增加约6.6%,p＜0.05）;与Ola组相比,Ola联合L-carnitine组在给药第20天到28天出现体重下降（第28天体重下降约7.1%,p＜0.05）。此外,各组大鼠的摄食及饮水量没有显著性改变。Ola给药后血清TG/TC含量、肝脏TG/TC/FFA含量较空白对照组增加,与Ola组相比,Ola联合L-carnitine组血清TG/TC

关键词：奥氮平 OCTN2 carnitine 脂代谢紊乱脂肪酸氧化 PPARγ

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