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inbrnerr - In Born Error of Metabolism(IEM Dr Mohammad...

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In Born Error of Metabolism (IEM) Dr Mohammad Khassawneh Assistant professor of pediatrics
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When to consider it What to do quickly to determine it is present or not
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Prospective approach for a healthy newborn Reactive approach to a clinically abnormal child
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Rarely a cause of disease in neonates Hyperphenylalaninemia 1:10,000 Galactosemia 1:50,000 Homocystinurea 1:200,000 Estimated overall incidence 1:2000 Many of metabolic diseases are under diagnosed
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Common conceptions It should only be considered with a family history AR disease 2 sibs diseased 6%, 2 of 3 14%… X-linked commonly a new mutation Hard to differentiate from sepsis Galctosemia and e- coli Many diseases present different from sepsis illness
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Common Conception Biochemical pathway are impossible to remember This is true for expert Pathways are not the important part of the evaluation general approach is more important It is difficult to conduct diagnostic study Should progress from broad to specific
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Continue Few metabolic diseases are treatable Should give more consideration to treatable conditions Genetic counseling sake Gene therapy hold a promise
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Newborn Screening Reliable screen test and low false negative Test is simple and inexpensive Available results soon to start effective therapy Definite follow up test Outcome without treatment is very bad Effective therapy is available
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The “sick” newborn infant Cardiomegaly/cardiomyopathy
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