Carnitine deficiency: a possible cause of gastrointestinal dysmotility

An infant with delayed development and peripheral myopathy, nourished on a soy-based liquid diet deficient in carnitine, had gastrointestinal dysmotility manifested by postprandial vomiting, oral drooling, delayed gastric emptying and infrequent bowel movements. Oesophageal manometry showed a reduced lower oesophageal sphincter pressure for age with abnormal distal motility. Serum carnitine concentration was 9.9 mumol l-1. After dietary supplementation of carnitine the gastrointestinal symptoms resolved, oesophageal manometry returned to normal, and serum carnitine increased to 37.2 mumol l-1. Dietary carnitine deficiency in infancy may be a cause of smooth muscle dysmotility of the gastrointestinal tract.     

Investigations on Carnitine Derivatives in Human Seminal Fluid

Free L-carnitine and its derivatives, present in human seminal fluid, were fractionated on Dowex 50WX8 (H ⁺) cation exchange columns by sequential elution with HCl (1 M, 2.5 M and 4 M). Free L-carnitine eluted with 1 M HCl, whereas other carnitine-containing materials eluted with 2.5 M and 4 M HCl. Chromatography of semen extracts on Whatman No 1 paper likewise resolved three classes of materials which satisfied the carnitine requirement of Torulopsis bovina ATCC 26014. In addition to water soluble alkali-hydrolyzable materials with the properties of short chain acylcarnitines, there was another carnitine derivative, resistant to hydrolysis, which eluted from Dowex 50 W columns with 4 M HCl. It was concluded the human semen contains free carnitine. short chain acylcarnitines and an unidentified highly polar carnitine derivative.     

Reversible cardiomyopathy due to carnitine deficiency from renal tubular wasting

The clinical course of a 4-month-old male infant with a dilated cardiomyopathy secondary to renal tubular losses of carnitine is outlined. He was admitted to the hospital with severe congestive heart failure. An echocardiogram demonstrated normal anatomy. The left ventricular shortening fraction measured 10%. A comprehensive cardiomyopathy evaluation was initiated.The total plasma carnitine level was only 25 mol/ml, but the urine carnitine measured 434 nm/mg of creatinine. He was begun on orall-carnitine and weaned from mechanical ventilation and inotropic support 10 days later. Two years later he remains asymptomatic with normal left ventricular function.     

Neonatal citrullinaemia with satisfactory mental development

In an infant with neonatal citrullinaemia therapy was instituted on day 1 of life with a low-protein diet and oral supplements of arginine, -keto-acids, essential amino acids and carnitine. The latter may have contributed to the excellent clinical outcome, as evidenced by normal growth and satisfactory psychomotor development at 3 years of age.     

Clinical significance of different carnitine levels for improving the prognosis of patients undergoing hemodialysis

Objective: To investigate plasma-free carnitine (Fc), acylcarnitine (Ac), and total carnitine (Tc) levels in patients undergoing hemodialysis (HD), and to explore their clinical significance.

Methods: A total of 20 subjects were in the normal control group and 133 patients undergoing HD were divided into medicated (received carnitine treatment) and non-medicated groups. The medicated group was further divided into three subgroups according to Fc level: Fc?=?80–199, 200–299, and?≥?300?μmol/L. We used non-derivative tandem mass spectrometry to determine carnitine levels, and clinical symptoms such as weakness, hypotension, and muscle cramps were recorded during dialysis.

Results: Fc and Tc levels were significantly lower in the non-medicated group than in the control group, whereas Fc, Ac, and Tc levels were higher in the medicated than non-medicated group (p<?.05). The medicated group had fewer symptoms during dialysis than the non-medicated group such as weakness, hypotension, and muscle cramps (p<?.05). An additional comparison showed that the incidence rates of hypotension and muscle cramps in the Fc?Conclusions: Patients undergoing HD have low carnitine levels. l-Carnitine can effectively increase Fc concentration and improve clinical symptoms; however, only the proper Fc range can reduce complications caused by dialysis. Thus, this range needs to be determined.     

一例肉碱棕榈酰转移酶1A缺乏症患儿的临床及CPT1A基因变异研究

目的分析一例肉碱棕榈酰转移酶1A(carnitine palmitoyl transferase 1A,CPT1A)缺乏症患儿的临床资料、代谢筛查和基因变异特征,探讨该病的诊断要点和分子遗传学发病机制。方法收集2018年5月就诊于湖南省儿童医院神经内科的一例以癫痫起病的CPT1A缺乏症患儿的临床资料及其血液酰基肉碱结果,采集患儿和父母外周血,提取DNA行基因检测。结果血液酰基肉碱谱提示游离肉碱(carnitine 0,C0)升高,C0/(C16+C18)明显升高。基因测序结果显示患儿CPT1A基因c.1846G>A和c.2201T>C复合杂合变异,母亲携带c.1846G>A变异,父亲携带c.2201T>C变异。结论本例CPT1A缺乏症患者以癫痫为第一临床表现发病,国内外暂未见相关报道。血液酰基肉碱分析是筛查和诊断CPT1A缺乏症的必要条件,二代测序有助于该病的确诊。CPT1A基因c.1846G>A和c.2201T>C变异可能为该患儿致病原因,c.1846G>A变异为未报道过的新变异,丰富了CPT1A基因变异谱。     

Carnitine content in the follicular fluid and expression of the enzymes involved in beta oxidation in oocytes and cumulus cells

Purpose

The purpose of this study is to study lipid metabolism in oocytes and embryos that is a neglected parameter in human IVF.

Methods

We have tested the total carnitine content (TC) in the follicular fluid of 278 patients (217 non pregnant, 61 pregnant) undergoing IVF.

Results

The follicular fluid TC is neither correlated with the circulating estradiol content in serum nor with the outcome the IVF attempt. Carnitine, through the carnitine shuttle, is a major partner in lipid beta oxidation, metabolic pathway involved in the acquisition of oocyte competence. The expression of carnitine synthesis enzymes and lipid beta oxidation was studied in cumulus cells collected at the time of ovum retrieval and in oocyte. Surprisingly the expression for carnitine synthesis is not detectable in oocytes whereas the enzymes involved in lipid beta oxidation are rather strongly expressed.

Conclusions

The addition of carnitine in oocyte maturation and embryo culture media should not be overlooked.     

Effect of L-carnitine on nucleic acid status of aged rat brain

The accumulation of damage to DNA plays a significant role in the etiology of the aging process. The importance of nutrition in delaying the aging process is well recognized. L-carnitine is a quaternary ammonium compound heterogeneously distributed in the brain. In the present study the effect of L-carnitine on DNA damage of various brain regions was investigated in a duration dependent way. Male albino rats aged 4 and 24 months were administered L-carnitine (300 mg/kg body weight/day) for 7,14 and 21 days. The activities of antioxidant enzymes, the levels of nucleic acids and the extent of DNA damage were measured in cortex, hippocampus, striatum, hypothalamus and cerebellum. Our results clearly showed that the activities of super oxide dismutase, glutathione peroxidase and the levels of DNA and RNA were significantly low in cortex, hippocampus and striatum of aged rat brain when compared with that of young rats. The regions that have lower antioxidants status are highly susceptible to oxidative DNA damage. Treatment with L-carnitine in aged rats enhanced the nucleic acid, antioxidant activity in a duration dependent manner with maximal effect after 21 days whereas no significant changes could be observed in the brain of young rats. These results suggest that that L-carnitine administration prevents age-related increment of DNA damage, thereby confirming the neuroprotective action of L-carnitine against aging.