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    Evaluation of endothelial function and platelet activation in dyslipidemic children
    (Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2016) Kalkan Ucar, Sema; Delen Akcay, Yasemin; Kologlu, Turan; Levent, Erturk; Sozmen, Eser Yildirim; Coker, Mahmut
    Objective: The aim of this study was to determine the parameters of endothelial function and platelet activation in children with familial hypercholesterolemia by measuring plasma homocysteine, asymmetrical dimethyl arginine (ADMA), nitrotyrosine and P-selectin levels. Methods: Thirty-five heterozygous familial hypercholesterolemic patients on statin therapy, 10 homozygous familial hypercholesterolemic patients treated by LDL apheresis and lipid-lowering drugs, and 25 healthy children, all aged between 2 to 16 years were enrolled in this study. Echocardiography was performed and intima-media thickness (IMT), and endothelium-dependent vasodilation parameters were evaluated. LDL apheresis was performed by adsorption method using double-membrane filtration technique. Plasma nitrotyrosine, homocysteine, P-selectin and ADMA levels were determined with an enzyme-linked immunosorbent assay (ELISA) using a commercial kit. Results: Plasma homocysteine (p=0.000), ADMA (p=0.005), nitrotyrosine (p=0.808), p-selectin (p=0.466) levels were lowest in the LDL apheresis group. A positive correlation was detected between homocysteine and intima/media thickness (r=0.334, p=0.043). Showed that LDL apheresis therapy might decrease plasma levels of homocysteine, ADMA, and nitrotyrosine, and might eventually play an important role in the improvement of endothelial dysfunction and platelet activity. Conclusion: Our data showed that at post-LDL apheresis status the homozygous hyperlipidemic children have lower levels of homocysteine, ADMA, and nitrotyrosine, compared with the heterozygous hyperlipidemic children.
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    Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes
    (Springer, 2024) Yoldas Celik, Merve; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Yuksel Yanbolu, Ayse; Atik Altinok, Yasemin; Coker, Mahmut; Eraslan, Cenk; Aykut, Ayca; Durmaz, Asude; Habif, Sara; Kalkan Ucar, Sema
    Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively. This study presents the clinical, biochemical, genetic, and neuroimaging findings of 15 patients (six males, nine females) from 13 families diagnosed with GA1. The median age at diagnosis was 20 months, and the median follow-up period was 72 months. Developmental delay was observed in 66.7% of patients, with 46.7% experiencing seizures and 33.3% suffering from encephalopathic crises. Biochemical analyses showed elevated levels of glutaric acid and 3-hydroxyglutaric acid in 93.3% and 80% of patients, respectively. Genetic testing identified the p.Arg402Trp variant in 53.3% of patients. Neurological evaluations revealed delays in motor and speech development, with 66.7% of patients never achieving the ability to walk. Cranial MRI indicated white matter changes in all patients and basal ganglia involvement in 93.3%. Despite significant biochemical improvements with treatment in glutaric acid levels and head circumference over time, neurological deficits remain unchanged. Growth parameters such as body weight showed significant decreases due to poor neurological outcomes.Conclusion: The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure timely diagnosis and treatment. What is Known:center dot Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. If untreated, it often leads to severe neurological complications. Early diagnosis and treatment are crucial for improving clinical outcomes in GA1 patients.What is New:center dot This study presents comprehensive data from a cohort of 15 Glutaric aciduria type 1 (GA1) patients, detailing their biochemical, genetic, clinical, and neuroimaging findings. Drawing attention to the severe neurological findings in late-diagnosed patients underscores the critical importance of including GA1 in newborn screening programs to enhance early diagnosis and prevent severe outcomes.
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    Presentation and management of classical urea cycle disorders: lessons from our experience
    (Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2016) Kalkan Ucar, Sema; Canda, Ebru; Kose, Melis; Kaginici, Mehtap; Altun Koroglu, Ozge; Calkavur, Sebnem; Habif, Sara; Coker, Mahmut
    Objective: The urea cycle disorders (UCD) are inherited deficiencies of the enzymes or transport molecules involved in the cellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate the clinical characteristics and long-term outcome of pediatric patients with UCD seen during childhood. Methods: Clinical characteristics in 13 patients with classical UCD (carbamoyl phosphate synthetase I deficiency (n= 4), argininosuccinate lyase deficiency (n= 4), argininosuccinate synthetase deficiency (n= 3), arginase deficiency (n= 1), and ornithine transcarbamylase deficiency (n= 1)) were defined. The term "neonatal-onset" UCD was used if symptoms occurred within 28 days of life, and "late-onset" if symptoms started after that period. Results: The majority of patients (n= 9) presented with acute metabolic crisis during newborn period. Core clinical phenotype in neonatal-onset UCD included sepsis-like neonatal crisis revealed in patients within 28 days after birth, whereas mental retardation was predominant peculiarity in late-onset UCD emerging more than 28 days after birth. Vomiting and hypotonia were frequently reported in neonatal-onset UCD, and epilepsy with/without movement disorder was found in late-onset UCD patients. For patients with neonatal-onset UCD hyperammonemia was more severe at first diagnosis of the disease, and remained near upper limits of normal during the follow-up period. However, hyperammonemia and metabolic crisis have been reported lomber spinal stenoz frequently in symptomatic patients. A cardinal principal of UCD in acute and long-term management of UCD. Despite these evolving treatment opportunities, still higher mortality rates were found in neonatal-onset UCD (44% (4/9)). Conclusion: Neonatal-onset UCD were generally presents itself as acute onset hyperammonemia during the newborn period. However, neurological manifestations were reportedly more diagnostic in the late-onset UCD. It has been concluded that the basic principles of diagnosis and treatment need to be reorganized to improve recognition and outcome in these diseases.
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    Recurrent ketoacidosis: Is it a ketone metabolism disorder?
    (Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2018) Canda, Ebru; Yazici, Havva; Esra, E. R.; Kalkan Ucar, Sema; Gemperle-Britschgi, Corinne; Habif, Sara; Onay, Huseyin; Sass, Jorn Oliver; Coker, Mahmut
    Objective: Two defects of ketogenesis have been reported in the human so far; mitochondria) 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3glutaryl CoA lyase (HL) deficiencies. Defects of ketone degradation (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoacetyl CoA thiolase-beta ketothiolase (MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were followed up with the diagnosis of ketone metabolism disorders. Methods: Patients who were diagnosed with ketone metabolism disorders were examined retrospectively. Results: The patients had HL deficiency (n=4), MAT deficiency (n=3) and SCOT deficiency (n=2). The median age of the patients was 5 years (6 months-15.5 years) and the mean age of the first metabolic decompensation episode was 7.7 months (22 days19 months). A patient with MAT deficiency was asymptomatic and diagnosed by family screening. Two patient; developed severe neurological deficit like spastic tetraparesis. It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis. Conclusion: in case of unexplained metabolic acidosis attacks, ketone metabolism disorders should be kept in mind. Acute decompensation may occur at different ages, and its clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.