Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this study, a simple and fast method employing capillary electrophoresis equipped with capacitively coupled contactless conductivity detection was developed for the detection of ethylmalonic acid in urine samples. The optimized electrophoretic separation was performed in 50 mmol/L 2-(N-morpholino)ethanesulfonic acid solution, buffered at a pH of 6.5, and contained 0.13 mmol/L cetyltrimethylammonium bromide as an electroosmotic modifier. Electrophoresis was run at 28 kV in reversed polarity. The linear range of ethylmalonic acid concentration was between 1 and 100 mg/L with a regression coefficient of 0.9998. This method had good intra-and interday precision with <5% relative standard deviations. The detection limit (signal-to-noise ratio = 3) and the quantification limit (signal-to-noise ratio = 10) values were 0.139 and 0.466 mg/L, respectively. Using our optimized conditions, the method was successfully employed for the detection of ethylmalonic acid in urine sample of ethylmalonic aciduria patient. K E Y W O R D Sethylmalonic encephalopathy, inborn error, metabolic disorders, urine

No abstract

BackgroundJuvenile idiopathic arthritis (JIA) is not a single disease; it's group of all arthritis with unknown etiology, starting before 16 years of age and lasting at least 6 weeks long. JIA is the most common rheumatic disease in childhood. Carnitine is an important molecule in cellular energy metabolism. Secondary carnitine deficiency can be detected in chronic diseases by either renal loss or increased demand.ObjectivesWe hypothesized that secondary carnitine deficiency may be seen to increased demand in JIA patients. In the present study our aim is to determine free carnitine and acyl-carnitine levels of Turkish JIA patients.Methods114 patients with a diagnosis of juvenile idiopathic arthritis and a healthy 50 individuals served as control group, were included to the study. A fasting blood sample was taken for free carnitine and acyl-carnitine esters with tandem mass spectrometry from children in both groups.ResultsScreening of acyl-carnitine profile revealed free carnitine, C14, C16, C16-OH, C18 and C18:2-OH carnitine levels were higher (p<0,0001, p<0,0001, p<0,0001, p<0,0001 and p=0,004 respectively), while C6 carnitine levels were lower (p<0,0001) in JIA patients than the control group. Free carnitine levels were significantly higher (48.05±13.36 μmol/L) in patients under anti-inflammatory drug therapy than those who did not receive any treatment (43.18±7.96 μmol/L) (p=0,004).ConclusionsIn the present study we were not able to define secondary carnitine deficiency in JIA patients, therefore routine carnitine supplementation is not recommended in all patients with JIA.ReferencesRavelli A, Martini A. Juvenile idiopathic arthritis. Lancet. 2007 Mar 3; 369(9563):767-78.Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad. Sci.2004; 1033:42–51.Disclosure of InterestNone declared

BackgroundFamilial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring self-limited fever, abdominal pain and chest pain caused by serositis (1). FMF mainly affects Middle-East populations with a high prevalence in Sephardic Jews, Turkish, Arabs and Armenians (2). Carnitine is an important molecule in cellular energy metabolism. Secondary carnitine deficiency can be detected in chronic diseases by either renal loss or increased needs (3).ObjectivesOur hypothesis was that FMF patients would have lower free carnitine levels than their healthy age and gender matched controls due to increased need of carnitine because of recurrent auto-inflammation. The present study was conducted to determine the patterns of free carnitine and acyl-carnitine esters in FMF patients.MethodsThis is a cross-sectional study of 205 FMF patients who were attending the outpatient Pediatric Rheumatology clinic of Cerrahpasa Medical Faculty Children's Hospital. The patients were selected by random sampling and FMF diagnosis was confirmed by a pediatric rheumatologist according to Yalcınkaya criteria. 50 healthy subsects were enrolled to the present study. A fasting died blood sample was taken for studying free carnitine and acyl-carnitine esters with tandem mass spectrometry from children in both groups.ResultsAcyl-carnitine analyses in spot dried blood samples with ESI-MS/MS were performed in all patients and control group. Screening of acyl-carnitine profile revealed free carnitine, C16-OH and C18:2 carnitine levels were higher (p<0,0001, p<0,0001 and p=0,003 respectively), while C4-OH and C4DC carnitine levels were lower (p<0,0001) in FMF patients than the control group.ConclusionsIn the present study we were not able to define secondary carnitine deficiency in FMF patients, therefore usage of carnitine in all patients with FMF is not recommended.ReferencesOzen S, Bilginer Y. A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin. Nat Rev Rheumatol. 2014;10(3):135-47.Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001;9:553–5.Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad. Sci.2004; 1033:42–51.Disclosure of InterestNone declared