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Inborn Errors of Metabolism in Newborns by Rubina is a document available to read on EtoBox.

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The document discusses inborn errors of metabolism, specifically phenylketonuria (PKU), tyrosinemia, and maple syrup urine disease. PKU results from an inability to break down phenylalanine and must be treated through a phenylalanine-restricted diet to prevent intellectual disability. Tyrosinemia involves a defect in breaking down tyrosine and is managed through a low-tyrosine, low-phenylalanine medical formula. Maple syrup urine disease stems from a mutation preventing breakdown of three amino acids and re

Author

Rubina

Language

EN