Determination of Ethylmalonic Acid in Human Urine by Ion Chromatography with Suppressed Conductivity

We present here a new method for the determination of EMA in urine by ion chromatography (IC) with suppressed conductivity detection. The separations on an anion exchange column have been accomplished with an optimized multi-step gradient eluent program (5 mM for 0-7 min, 5-50 mM from 7 to 30 min, 50 mM for 30-40 min, 50-5 mM from 40 to 45 min, 5mM for 45-50 min at flow-rate 0.2 mL/min) using NaOH as the eluent. The temperatures of both the column and suppressed conductivity detector were 40 degrees C. The suppressor current was 25 mA. The injection loop volume was 100 mu L. Prior to injection, a clean-up procedure has been applied to urine samples for sulfate removal using BaCl2 precipitation followed by elimination of cationic and some organic compounds using strongly acid cation-exchange resin and C18 solid phase extraction cartridge, respectively. Concentration range of EMA for linear external calibration curve was between 0.202 -30.278 mu mol/L (r(2)=0.999). The limit of detection and the limit of quantitation were 61 nmol/L and 202 nmol/L based on the signal-to-noise ratio equal to 3 and 10, respectively. The average recoveries of EMA for normal urine samples were between 98.2-99.3 % with less than 1.1 % relative standard deviation (RSD), and for pathological sample were between 97.2-107.8% with less than 1.9% RSD in both intra-day and inter-day assays. The average concentrations of EMA normalized against creatinine for healthy human urine samples and a pathological sample were 1.14 (0.88-1.50) and 128.95 (128.04-129.33) mu mol mmol-1 creatinine, respectively

Coagulation Disturbances in Patients with Argininemia

BACKGROUND Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. METHODS In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. RESULTS All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. CONCLUSIONS Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis. Conclusion: Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been studied in detail except a few studies. It is critically important to discuss the wide neuroradiological spectrum of the disease and to highlight fucosidosis in differential diagnosis of bilateral pallidalhypointensity on T2-weighted images in brain MRI. In addition, description of atypical clinical findings of fucosidosis should avoid clinicians from diagnostic delay

Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever

Objectives: This study aims to demonstrate the patterns of free carnitine (FC) and acylcarnitine (AC) esters in familial Mediterranean fever (FMF) patients

Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis

L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive disorder that is caused by deficiency of 2-hydroxyglutarate dehydrogenase. Pathophysiology of brain damage is poorly understood. In recent years, it was proposed that oxidative stress was elevated and led to brain injury. Aim of this study is to evaluate thiol/disulphide homeostasis as an indicator of oxidative stress in L2HGA patients who have been receiving antioxidant treatment. Sixteen L2HGA patients and 16 healthy individuals were included in the study. All the L2HGA patients were regularly followed up and presented neurological dysfunction at different grades. Fourteen patients had been receiving antioxidant treatment. Serum native thiol (-SH), total thiol (-SH+-S-S-) and disulphide (-S-S) levels were measured. Disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated from these values. No significant difference was observed in -SH, -SH+-S-S-, -S-S levels between two groups. In addition to that, no increase of disulphide/native thiol and disulphide/total thiol ratios was detected. Thiol/disulphide homeostasis parameters were also compared between patients who had been receiving and not receiving antioxidant therapy; and between different types of antioxidant therapy and the results did not point to any significant difference. This is the first study that evaluates dynamic thiol/disulphide homeostasis as an indicator of oxidative stress in L2HGA and it has one of the largest sample sizes among previous studies. In our study we suggest that antioxidant therapy should be effective in preventing oxidative stress in L2HGA patients, which has been reported in previous studies and should be a part of standard therapy

Evaluation of the effect of chenodeoxycholic acid treatment skeletal system findings in patients with cerebrotendinous xanthomatosis

Aim: The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis