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Understanding Phenylketonuria (PKU) by Buvana Vignesh is a document available to read on EtoBox.

What is Understanding Phenylketonuria (PKU) about?

PKU (phenylketonuria) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which normally breaks down the amino acid phenylalanine. This causes phenylalanine to build up in the blood and brain, potentially causing intellectual disability if left untreated. Treatment involves a lifelong diet low in phenylalanine. Congenital hypothyroidism is one of the most common preventable causes of intellectual disability and is usually due to an underdeveloped or absent thyr

Author

Buvana Vignesh

Language

EN