Pku

What is Pku?

PKU stands for 'phenylketonuria', an enzyme deficiency disease characterized by congenital absence of the enzyme phenylalanine hydroxylase. Infants with PKU are normal at birth but develop mental retardation over the first few weeks of life. Hence, all infants have to be screened for PKU at birth.

Questions and answers on "Pku"

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
Well come to HCM
I really appreciate your concern, let me inform you something that passing the stool three to four time in day is normal one...

Read Full Thread   Ask a Doctor Now

Hi my sister (48 years old) just informed me she had PKU. I'm not sure why her doctor is telling her this. She is not mentally retarded (she has a...

doctor1 MD

Hi XXXXXXX
Thanks for your query.

Although it is possible that some people with mild phenylketonuria are living relatively normal lives and are not...

Read Full Thread   Ask a Doctor Now

I have a child one years old . after start eating he develop extended spleen & liver with vomitting & diahrea. he wad diagnosed as PKU Phe (<500) ....

doctor1 MD

HI
Thank for asking to HCM
I really appreciate your concern and as long as the diarrhea is concern I would say that 4 to 5 frequency of passing...

Read Full Thread   Ask a Doctor Now

Recent questions on Pku


Ask Question
Doctor Image
MD

Hi, I am Dr. Andrew Rynne (Family Physician). I will be guiding you through the process. Please write your question below.

Related Drugs/Medications
Related Procedures