Suggest Treatment For Phenylketonuria In A Child

Posted on Sat, 30 Apr 2016

Question: Do you have any doctors who have experience working with PKU (Phenylketonuria) in infants and children? It is a inherited/genetic metabolic disorder. My son is 15 months old and I need a second opinion about his treatment plan. Thanks.

Answered by Dr. Diptanshu Das (26 minutes later)

Brief Answer:
It is a genetic

Detailed Answer:
Thanks for asking on Health care magic.

You seem to be located in Spain. PKU is a genetic disease. You can get in touch with the following for second opinion:
http://www.byyyyyyyyyyyy.com/en/hospital/bayyyyyyya-children-s-hospital-yyyyyy-yyyyyy-de-yyyy

Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Diptanshu Das (15 minutes later)

Thanks but actually I am already working with that hospital (sant XXXXXXX de deu) and I am unhappy with their treatment, that is why I am searching for a second opinion. But mostly I am just looking for some advice about what is needed nutritionally for a "normal" child so that I can compare, e.g. how many calories, grams of fat, grams of protein etc is needed per day for a 15 months old child of 8.7 kilos. I need to know this so that I can examine his diet to see if he is not getting enough then maybe that would explain this problem. Can you tell me the serving sizes and quantities of food that a normal child this age should be eating to avoid metabolizing their own protein?

Answered by Dr. Diptanshu Das (11 hours later)

Brief Answer:
It is more important to maintain dietary principles than the amount

Detailed Answer:
Thanks for writing back. Sorry for not being able to respond faster.

I understand your requirements better now. I would insist you to go through the following links:
http://www.mealplansite.com/medical/pku-child.aspx
https://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/treatments.aspx
http://depts XXXXXXX edu/pku/about/diet.html
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/
http://www.nhs.uk/Conditions/Phenylketonuria/Pages/Treatment.aspx

The protein requirement of a normal child varies between 1-3 g/kg body weight/day.

While these mention the qualitative aspects to be maintained, your question related more to the quantitative aspects like amount and calories. But I would insist on taking an indirect approach here. Rather than measuring the amount of food provided, it would be better to monitor the growth by plotting on a growth chart (available at: http://www.cdc.gov/growthcharts/data/who/grchrt_boys_24lw_100611.pdf )

Let me know if I could help further.

Regards

Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar