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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Recent questions on  Phenylketonuria

doctor1 MD

my baby is 21 month old and she is suffering from diaria since more than 1 year her wieght and her size is not growing her wait is 8.5 killo i...

doctor1 MD

Hi my baby is 7 weeks old. Both PKU came back that she has the biotinidase deficiency. Doctor sent her for blood work to test for that specific...

doctor1 MD

What does elevated above normal tyrosine indicate?

doctor1 MD

Do you have any doctors who have experience working with PKU ( Phenylketonuria ) in infants and children? It is a inherited/genetic metabolic...

doctor1 MD

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

My son has hyperphenylaninemia, he is now 28 years old. He is no longer treated with phenylfree formula, as his doctors stated no treatment is...

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