Phenylketonuria (PKU) Support Group
Phenylketonuria [PKU] is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.
Hello all,
I have an infant with CPKU and is today 9 weeks old. He was diagnosed with CPKU in week 8. Somehow the results of the newborn screening (and subsequent blood tests) only came in in week 8, which confirmed his condition. My son was put on the special formula in week 8.
I have been reading that treatment needs to start as early as 2-3 weeks old to prevent and form of intellectual or physical disability.
I just want to know if treatment had only begun in week 8, would my son be in a disadvantageous position and be exposed to risks of intellectual or physical disability?
Of course if we had it our way, we would have wanted treatment to begin earlier, or at least put someone (the pediatrician!!!) responsible in delaying the definite diagnosis. But what's done is done, and my focus now is on providing the best treatment for my son.
I need to know that it is not too late. Ever since my son has been prescribed formula, we have been religiously feeding him.
I welcome insights and advice from those who know please.
Thank you.
Regards
I have an infant with CPKU and is today 9 weeks old. He was diagnosed with CPKU in week 8. Somehow the results of the newborn screening (and subsequent blood tests) only came in in week 8, which confirmed his condition. My son was put on the special formula in week 8.
I have been reading that treatment needs to start as early as 2-3 weeks old to prevent and form of intellectual or physical disability.
I just want to know if treatment had only begun in week 8, would my son be in a disadvantageous position and be exposed to risks of intellectual or physical disability?
Of course if we had it our way, we would have wanted treatment to begin earlier, or at least put someone (the pediatrician!!!) responsible in delaying the definite diagnosis. But what's done is done, and my focus now is on providing the best treatment for my son.
I need to know that it is not too late. Ever since my son has been prescribed formula, we have been religiously feeding him.
I welcome insights and advice from those who know please.
Thank you.
Regards
My point is that your baby will more than likely be just fine as long as you stick to the diet and formula.
Im here to tell you that 9 wks is definitely not too late...I have classical PKU and was diagnosed late at 18 months of age...I havae 2 healthy daughters (no pku) normal, have a job, drive and was married for 25 yrs...it can still be controlled very well with diet n formula...Good luck...here to help if you need it