Inborn errors of purine and pyrimidine metabolism - PowerPoint PPT Presentation

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Inborn errors of purine and pyrimidine metabolism

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Genetic defects, biochemical abnormalities, clinical features and management of inborn errors of purine and pyrimidine metabolism – PowerPoint PPT presentation

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Title: Inborn errors of purine and pyrimidine metabolism


1
Inborn Errors
of
Purine and Pyrimidine Metabolism
R. C. Gupta Department of Biochemistry National
Institute of Medical Sciences Jaipur, India
2
E M B - R C G
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Disorders of purine metabolism
E M B - R C G
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E M B - R C G
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Primary gout
E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
Metatarso-phalangeal joint of big toe is affected
most frequently
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E M B - R C G
Less commonly, other small joints are affected
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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Lesch-Nyhan syndrome
E M B - R C G
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E M B - R C G
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E M B - R C G
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E M B - R C G
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Adenosine deaminase (ADA) deficiency
E M B - R C G
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E M B - R C G
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E M B - R C G
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Purine nucleoside phosphorylase deficiency
E M B - R C G
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E M B - R C G
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Disorders of pyrimidine metabolism

E M B - R C G
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E M B - R C G
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E M B - R C G
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Orotic aciduria, Type I
E M B - R C G
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E M B - R C G
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E M B - R C G
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Orotic aciduria, Type II
E M B - R C G
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E M B - R C G
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Thank you
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