Phenylketonuria

What is Phenylketonuria?

Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme (PAH), rendering it nonfunctional.

Questions and answers on "Phenylketonuria"

My grandkids' cousin, as a baby, male, had feces that smelled abnormally bad, even off formula. He has had a strong, all-over, musty body odor from...

doctor1 MD

Brief Answer:
He needs to be screened for phenylketonuria.

Detailed Answer:
Thanks for asking on HealthcareMagic.

Your grandkid's cousin's baby...

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What does elevated above normal tyrosine indicate?

doctor1 MD

Brief Answer:
tyrosinemia needs work up .

Detailed Answer:
Thank you for asking

i read your question and i understand your concern. Raised tyrosine...

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Is there anything besides hyperphenylalaninemia that can cause an all-over, musty body odor in a young child, boy, age 6, who has smelled musty...

doctor1 MD

Brief Answer:
Phenylketonuria is the only disorder which causes musty body odor.

Detailed Answer:
Hello,
Thanks for posting your query on...

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