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A 33-year-old member asked:

what are the symptoms associated with pku?

1 doctor answer1 doctor weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Blond/slow/seizures: For babies born without newborn screening this is a significant risk. They have blonder hair than they should( metabolic thing), develop slowly and eventually have seizures and diminished intellect. State screening programs have been screening for this since the 1960's, and rarely miss a case.

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A 25-year-old member asked:

Are there effective alternative therapies for pku?

3 doctor answers5 doctors weighed in
Dr. Wlodzimierz Wisniewski
Neonatology 30 years experience
No: The only way to treat pku or rather to prevent symptoms of this disease is proper diet eliminating certain aminoacids from the diet. To prevent malnutrition you need to discuss this diet with specialist in metabolic diseases and dietitian.
A 39-year-old member asked:

What is pku?

2 doctor answers5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children. All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid.
A 36-year-old member asked:

How hard is it to test if you have pku?

3 doctor answers9 doctors weighed in
Dr. Derrick Lonsdale
Preventive Medicine 73 years experience
Easy: Every newbnorn is tested for this in a state lab in the U.S.. If this was not reported at birth the person does not have pku.
A 46-year-old member asked:

What is the treatment for pku?

3 doctor answers10 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Diet: A diet low in phenylalanine. You should consult a nutitionist well versed with the this diet. The treatment is very essential in childhood and during pregnancy.
A 38-year-old member asked:

How id pku inherited?

3 doctor answers3 doctors weighed in
Dr. Derrick Lonsdale
Preventive Medicine 73 years experience
Recessive: This means that the abnormal gene has to come from both parents who each have a single gene that makes them a genetic "carrier". This is more likely to occur when the parents are related as e.G 1st cousins. Although legal it is a risky union. We all have a chance of being a carier like this for many diseases. The disease will only occur if spouse has the same gene.

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Last updated Jun 26, 2014

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