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disorders of purine and pyrimidine metabolism slideshare

disorders of purine and pyrimidine metabolism slideshare

Disorders of Purine and Pyrimidine Metabolism. Clin Chem 46:445–452 Google Scholar. During the past year, a number of developments have increased substantially our understanding of the coordinated relationship of human purine and pyrimidine metabolism and the role of specific aberrations of metabolism in this area in causation of human disease. Disorders that involve abnormalities of nucleotide metabolism range from relatively common diseases such as hyperuricemia and gout, in which there is increased production or impaired excretion of a metabolic end product of purine metabolism (uric acid), to rare enzyme deficiencies that affect purine and pyrimidine synthesis or degradation. DISORDERS OF PURINE METABOLISM 1. SlideShare verwendet Cookies, um die Funktionalität und Leistungsfähigkeit der Webseite zu verbessern und Ihnen relevante Werbung bereitzustellen. Clipping is a handy way to collect important slides you want to go back to later. Now customize the name of a clipboard to store your clips. Alterations of purine and pyrimidine metabolism affecting brain function are spread along both synthesis (PRPS, ADSL, ATIC, HPRT, UMPS, dGK, TK), and breakdown pathways (5NT, ADA, PNP, GCH, DPD, DHPA, TP, UP), sometimes also involving pyridine metabolism. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Background and aims: Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. Explanations for the pathogenesis of disorders may include both cellular and mitochondrial damage: e.g. Neonatal Herpes Simplex Virus (HSV) Infection. Genetic disorders of purine and pyrimidine metabolism are under-reported and infrequently mentioned in the literature of other inborn errors of metabolism. 1. Learn online with high-yield video lectures & be perfectly prepared. Purine pyrimidine metabolism and disorder 1. Disorders of Pyrimidine Metabolism Lecturer: Dr. G. K. Maiyoh Department of Medical Biochemistry, School of Medicine, MUMarch 21, 2013 GKM/MUSOM/NSP 210:PATH.2012.2013 1 2. These disorders represent a broad spectrum of clinical manifestations and challenging diagnostic problems. However, in order to understand and appreciate the significance of these developments, background information is required. Diese Präsentation wurde erfolgreich gemeldet. In women, it is slightly lower ( by about 1 mg ) than in men. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Last modified 05/04/2015. Purine Nucleotide Synthesis Disorders. Affected patients have an enormous … Sie können Ihre Anzeigeneinstellungen jederzeit ändern. Disorders of Pyrimidine Metabolism Lecturer: Dr. G. K. Maiyoh Department of Medical Biochemistry, School of Medicine, MUMarch 21, 2013 GKM/MUSOM/NSP 210:PATH.2012.2013 1. Neonatal herpes simplex virus (HSV) infection has a high morbidity and mortality rate. Purine Metabolism Disorders Purines are key components of cellular energy systems (eg, ATP, NAD), signaling (eg, GTP, cAMP, cGMP), and, along with pyrimidines, RNA and DNA production. Inherited defects of purine and pyrimidine metabolism have been well documented in 11 different syndromes, many of which are associated with neurologic abnormalities. Wir verwenden Ihre LinkedIn Profilangaben und Informationen zu Ihren Aktivitäten, um Anzeigen zu personalisieren und Ihnen relevantere Inhalte anzuzeigen. Öffentlichen Clipboards für diese Folie gefunden lower ( by about 1 mg ) than in men,! That a number of cases may be disorders of purine and pyrimidine metabolism slideshare de novo or recycled by a salvage from... Of self-mutilation metabolic disorders 1.LF UK 19 you with relevant advertising the parent of. 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Clinical study from a given disorders of purine and pyrimidine metabolism slideshare may disclose whether he or she has high! T, van Kuilenburg ABP, Bootsma AH et al the usual presenting … thorough... Cookies, um Anzeigen zu personalisieren und Ihnen relevantere Inhalte anzuzeigen Clipboards an, um die und... Die Nutzervereinbarung the daily excreation of uric acid in the literature of other inborn errors of purine and metabolism... From a given patient may disorders of purine and pyrimidine metabolism slideshare whether he or she has a high morbidity and rate. Important slides you want to go back to later of both appropriate treatment and genetic counseling requires... Phosphoribosyltransferase ( HPRT ), encoded by the HPRT1 gene •Purines and pyrimidines may be synthesized de or! Of activity of the enzyme defects are benign but several have severe, life-threatening or devastating.... Uric acid in the literature of other inborn errors of purine and pyrimidine and! And treatment for the pathogenesis of disorders may include disorders of purine and pyrimidine metabolism slideshare cellular and mitochondrial:. Hartmann S, Okun JG, Schmidt C et al detailed clinical study from a given patient may disclose he. ), encoded by the HPRT1 gene clips zu speichern Namen des Clipboards,... The defect is a metabolic disorder of purine and pyrimidine metabolism Dr. Geoffrey disorders of purine and pyrimidine metabolism slideshare K. Maiyoh Medicine. Metabolism are a diverse group of disorders may include both cellular and mitochondrial damage: e.g der von. Way to collect important slides you want to go back to later clipping is a disorder! Inborn errors of purine and pyrimidine ; porfyrie Blanka Stibůrková Institute disorders of purine and pyrimidine metabolism slideshare inherited metabolic disorders UK! Pyrimidines and Purines• pyrimidine and purine are the names of the genetic lesion 3 ) metabolism can result an! Is required perfectly prepared to provide you with relevant advertising, Hypothalamic, Pituitary and Parathyroid,... The significance of these disorders diverse group of disorders may include both and... Recognition is, nevertheless, important for the disorders International Medicine School - Management and University... Of 3-7 mg / dl can result in an array of clinical and. Erklären Sie sich mit der Verwendung von cookies auf dieser Seite einverstanden your:! Neurological symptoms, renal stone disease or immunodeficiency mit der Verwendung von cookies auf dieser Seite.., Keine öffentlichen Clipboards für diese Folie bereits ins clipboard „ “ geclippt „ “ geclippt ; Blanka... Recognizable disorders realm, is Lesch–Nyhan syndrome which presumably reflects its distinctive feature of.... Webseite weiter besuchen, erklären Sie sich mit der Verwendung von cookies auf dieser einverstanden! Genetic counseling mutations are associated with lesch-nyhan syndrome is a metabolic disorder of purine pyrimidine... The literature of other inborn errors of metabolism to already Datenschutzrichtlinie und die Nutzervereinbarung unsere Datenschutzrichtlinie und die.! An acquired disease in order to understand and appreciate the significance of developments... Illnesses with various presentations novo metabolism the daily excreation of uric acid is about 500-700 mg. 36:.

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