Question 1

What does "pku" mean?

Accepted Answer

`abbr.`A genetic metabolic disorder caused by a mutation in the gene for phenylalanine hydroxylase, resulting in an inability to break down the amino acid phenylalanine, leading to its accumulation and causing intellectual disability and other health problems if not treated with a special diet.

Question 2

How do you pronounce "pku"?

Accepted Answer

The pronunciation is /ˌpiː keɪ ˈjuː/. Listen to American and British pronunciations on this page.

pku

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