A newborn presents with severe intellectual disability, seizures and a “musty” odour to the skin. | Medibuddy
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6th February 2024

A newborn presents with severe intellectual disability, seizures and a “musty” odour to the skin.

A newborn presents with severe intellectual disability, seizures and a “musty” odour to the skin. Lab tests reveal elevated levels of phenylalanine in the blood. 

What is the most likely diagnosis?

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