Ertan Mayatepek

..GGT deficiency represents a new inborn error of cysteinyl LT synthesis and provides a unique model in which to study the pathobiological coherence of LT and glutathione metabolism...

..A lactose-free infant formula can be life-saving in affected neonates whereas a strict fructose-restricted diet is indicated in hereditary fructose intolerance...

..This is relevant because of the prevalence of mild FMO3 deficiency in the general population. BZD may be also useful as a diagnostic probe for determination of FMO3 deficiency in vivo...

..These data suggest membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect...

..g. contributing to liver injury. In addition, our data confirm that the beta-oxidation of cysteinyl LTs in vivo occurs in peroxisomes and not in mitochondria...

..Further diagnostic evaluation, including enzyme and molecular analyses, is essential to identify very long-chain acyl-coenzyme A dehydrogenase deficiency correctly...

..Our aim was to improve diagnosis and management of pseudotumor cerebri (PTC; also known as idiopathic intracranial hypertension) in children...

..Our results suggest that mitochondrial complex I biogenesis is evolutionarily conserved. Moreover, Caenorhabditis elegans appears to be a promising model organism to study assembly factor related human diseases...

..However, there are first reports of cognitive impairment in patients with elevated plasma tyrosine concentrations...

..The principle mechanism regulating carnitine homeostasis seems to be endogenous carnitine biosynthesis, also under conditions with increased demand of carnitine such as in VLCAD-deficiency...

..This is the first study demonstrating that acylcarnitines and acyl-CoA directly correlate and concomitantly increase after exercise in VLCAD-deficient muscle...

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..Therefore, we developed a new liquid chromatography tandem mass spectrometry (LC-MS/MS) method to rapidly determine both MCAD- and/or VLCAD-activity in human lymphocytes in order to confirm diagnosis...

..This suggests (partially) independent effects of MICS-1 and ATAD-3 on lifespan and ROS production in vivo...

..Severe cardiac mitochondrial proliferation in TFP deficiency suggests pathophysiologically relevant energy deficiency in this condition...

..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...

..Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS...

..Patients with CHI should be managed by centers with a highly experienced team in diagnostic work-up and treatment of this disease...

..The necessity to treat hsPDA can neither be derived solely from clinical nor from echocardiographic criteria...

..Therefore, aneurysmal bone cyst should be considered early when children present with unusual, rapid-growing neoformations of the extremities or the facial region...

..Our study highlights the clinical features, contributing factors, and treatment options of this syndrome in children...

..In conclusion, our assay allows biochemical confirmation of a number of FAOD and OAD and could easily be implemented into the confirmatory diagnostic work-up...

..Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population...

..Our data suggest that carnitine supplementation in long-chain beta-oxidation defects may not be required, and blood carnitine concentrations do not reflect tissue carnitine homeostasis...

..The applied MS strategy, based on two different MS platforms (LC/MS/MS and FTMS), allowed the rapid identification analysis of the drug metabolites from human extracts and could be used for pharmaceutical research and drug development...

..Any form of pancreatitis should be ruled out in the assessment of acutely ill patients with BCOA...

..This knowledge should prompt careful observation and, where necessary, early intervention during the postnatal period of catabolism...

..Worldwide, only nine cases of slipped capital femoral epiphysis (SCFE) associated with primary hyperparathyroidism (PHP) have been reported...

..Since infectious mononucleosis is a common cause for clinical consultations in adolescence, physicians caring for children with hematologic disorders should be particularly aware of those possible complications...

..This case demonstrates that GLUT1-DS should be investigated in individuals with unexplained developmental delay. Epilepsy is not a mandatory symptom. The ketogenic diet is also beneficial for non-epileptic symptoms in GLUT1-DS...

..Moreover, we present the first complex I assembly profile for C. elegans, obtained by two-dimensional BN/SDS-PAGE...

..This demonstrates that early diagnosis of Richner-Hanhart syndrome is possible in neonates by extended newborn screening. Early introduction of dietary treatment is a prerequisite to reduce the risk of clinical symptoms...

..Inhibition of respiratory chain and tricarboxylic acid cycle is most likely induced by synergistically acting alternative metabolites, in particular 2-methylcitric acid, malonic acid, and propionyl-CoA...

..ECG-gated non-enhanced balanced steady-state free precession (bSSFP) MR angiography requires neither breath-holding nor administration of contrast material...

..Patients should be screened for riboflavin deficiency and a therapy with riboflavin may provide effective treatment in some affected patients...

..To test the feasibility of free carnitine (FC) determination in dried blood spot specimens (DBS) by stable isotope-dilution electrospray-ionisation tandem mass spectrometry (MS/MS)...

..Nitrative stress is predominantly caused following synthesis of peroxynitrite. Particularly preterm infants with immature defense mechanisms against free radical injury appear at risk...

..This case illustrates that the morphological classification of cerebral malformations does not allow one to predict with certainty whether a child will develop impaired motor and/or higher cognitive functions...

..Conclusion: Urinary alpha-KG is elevated in most patients with HHS and should be included in the work-up of patients with hyperinsulinism...

..A stable mutation at codon 276 led to a nearly complete resistance to palivizumab. Additional studies revealed a second mutation at codon 272. Further passage of the virus led to a complete loss of binding of palivizumab...

..Even severe hypernatremia might not inevitably lead to central nervous system dysfunction and seizures in extremely low birth weight infants...

..In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening...

..These defects are characterized by accumulation of specific polyols in body fluids. Little is known about human polyol metabolism, but there are indications for a physiological role primarily during early development...

..Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care...

..This could facilitate diagnosis, monitoring, and management of liver involvement in ARPKD or any other cystic kidney disease...

..Many patients have reached adulthood already, and thus may be attended by adult physicians. In this study the authors evaluated the situation of adult patients with metabolic diseases in Germany...

..In summary, arginase-1 overexpression leads to upregulated CAT-1 expression in psoriatic skin, which is due to lowered intracellular l-arginine levels and limits NO synthesis at physiological l-arginine concentrations...

..A thorough clinical examination of affected patients should focus on typical disease-defining features. Early diagnosis of NF1 can prevent unnecessary treatment at least in some patients...

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..This case presents a young child with a combination of two CCDs, at first due to perinatal brain injury, and at second to SE. MRI with diffusion-weighted sequences can detect CCD at an early stage...

..Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account...

..Modifications of admission weights could significantly affect reimbursement in either direction...

..This means that the spread of the disease must be closely monitored...

..These data suggest that progesterone plays an important role in the development of neurofibromas in NF1...

..5-40 microM and the determined correlation coefficients were r(2)>or=0.995. This presented method is rapid, sensitive, specific and suitable for clinical practice and research...

..The aim of the present study was to investigate the correlation between neonatal, paediatric and adult disease severity scores and reimbursement by health insurances...

..However, the commonly used metabolite ratios should still allow the detection of inborn errors of metabolism...

..Mammalian ATAD3 is a mitochondrial protein, which is thought to play an important role in nucleoid organization. However, its exact function is still unresolved...

..There might be a hint to a familial disposition. Neonatal cranial ultrasound protocols should include brainstem and posterior fossa examination with specific scans through the mastoid fontanel...

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..Low-glycemic index (GI) diet vs. high-GI diet improves glycemic control, but it is not clear whether a low-GI diet is superior to an optimized mixed diet (OMD)...

..We discuss the importance of tumor multifocality and the role of patient age in the clinical presentation with reference to the literature...

..In conclusion, the present study revealed that NMDA receptor activation and subsequent disturbance of Ca(2+) homeostasis contribute to 3-OH-GA-induced cell damage...

..However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients...

..We conclude that all patients with mucopolysaccharidosis type II (those with and without clinical central nervous system involvement) may benefit from enzyme replacement therapy...

..Therefore, these findings provide a new explanation for congenital alterations of ICC development that result in gastrointestinal motility disorders...

..In conclusion, this novel technique is a powerful tool for the investigation of fatty acid oxidation disorders under standardized conditions in fibroblasts...

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..We speculate that intestinal motility and establishment of full enteral feedings may be achieved earlier by epidural ropivacaine in cases of abdominal surgery in ELBW infants...

..Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established...

..Chest drainage or percutaneous aspiration was not feasible. Noninvasive treatment might represent an acceptable option in premature infants...

..In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed...

..Visual loss is a serious complication, which requires careful monitoring and management...

..The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis...

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..The osmotic regulation of BHMT may be part of a cell volume-regulatory response and additionally lead to metabolic alterations that depend on the availability of betaine-derived methyl groups...

..The aim of this study was to evaluate an enzymatic phenylalanine (Phe) determination in the whole context spanning from the initial investigation over the recall period, up to the confirmation or exclusion of the disease...

..In conclusion, excitotoxicity contributes to the neuropathology of d-2-hydroxyglutaric aciduria, highlighting new neuroprotective strategies...

..A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species...

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..The membrane-associated antioxidant coenzyme Q10 (CoQ10) or ubiquinone-10 is frequently measured in serum or plasma. However, little is known about the total contents or redox status of CoQ10 in blood cells...

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..Recurrent febrile crises seem to diminish with increasing age and may not even be an obligatory finding. Elevation of IgD is most likely a secondary phenomenon that seems to be linked to recurrent febrile crises...

..2; B: 36.5 nmol/mol creatinine), during (A: 27.0; B: 29.3) and after treatment (A: 28.9; B: 26.5 nmol/mol creatinine). We conclude that urinary LTE4 levels are not helpful in monitoring patients treated with anti-IgE and SIT...

..The ALG1 mannosyltransferase defect described here represents a novel type of CDG, which should be referred to as CDG-Ik...

..Molecular genetic testing identified a novel NF1 mutation and, thus, enabled a confident NF1 diagnosis despite the unusual phenotypical presentation in this patient...

..Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered...

..No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder...

..CONCLUSIONS: Pyrimidine degradation defects should be included in the differential diagnosis of convulsions, (febrile) status epilepticus, psychomotor retardation and possibly also ALTE-like events...

..These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted...

..We propose that neuropathogenesis of methylmalonic aciduria may involve an inhibition of complex II and the tricarboxylic acid cycle by accumulating toxic organic acids, and synergistic secondary excitotoxic mechanisms...

..We present our experience with a newly described method for succinylacetone quantification in routine newborn screening...

..We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes...

..Under these conditions faithful mask calculation and TMRM intensity analysis were still possible using a mitochondria-targeted green fluorescence protein (mitoAcGFP1), expressed in the cells using baculoviral transfection...