Table 3.

Main results of patients, parents and caregivers answers in PKU questionnaire.

	Patients, parents and caregivers (%)
Age of PKU diagnosis. n = 228
Newborn	90
Between 1 and 5 years old	8
Over 10 years old	2
Reason for the late diagnosis. n = 23 (only for those diagnosed late)
The results of newborn screening were normal/ negative for phenylketonuria	4
Newborn screening was not done at the birth center	61
Newborn screening results were not received	13
Doctors lack of knowledge	9
Other reasons	13
Current age of PKU patient. n = 21 (caregivers of patients with late diagnosis only)
Under 2 years old	15
From 3 to 5 years old	20
From 6 to 10 years old	17
From 11 to 15 years old	16
From 16 to 20 years old	8
From 21 to 30 years old	19
Above 31 years of age	5
Pediatrician requested the NBS result. n = 21 (caregivers of patients with late diagnosis only)
No	76
Yes	24
Routine control of PKU levels. n = 228
Food for all meals is weighed daily, I calculate the amount of phenyl according to the daily allowance provided by the nutritionist along with the amount of formula	48
Food is weighed whenever possible, but I'm unable to calculate the amount of phenyl for all meals and do not always administer the formula	10
I am neither able to weigh food nor do the calculation of the amount of phenyl, but I am experienced at diet management and I administer the formula when I feel that my family member needs to take it	30
Not much control is done, since I see that my child/family member feels well and I can make the diet flexible	12
Perspective of PKU control. n = 228
Totally controlled 5	41
4	34
3	21
2	3
1 Not controlled at all	1
Greatest difficulty to continue treatment n = 213 (only those who reported difficulties)
The public health system does not provide low-protein foods	13
Frequently changing amino acid formulas provided by the public health system	21
Following and controlling diet on a daily basis, due to the level of restrictions	18
There is no medication treating phenylketonuria	9
I am unable to easily find the food suggested by the nutritionist	7
Having a different diet from the rest of the family	4
The medication available to treat PKU is not available from the public health system	4
Social exclusion/ lack of understanding by others	2
Daily weighing of all food	1
Doing a blood test at every doctor's visit	1
Difficulty getting to the doctor's office/ lack of appropriate transportation	1
Little understanding and support from family and friends	1
Difficulty understanding the orientation provided by the physician or nutritionist	0
Adherence to physician's instructions n = 228
I follow all guidelines	42
I follow most guidelines approximately	33
My doctor does not provide many orientations; I receive most of them from my nutritionist	18
I follow half of the guidelines approximately	6
I follow few guidelines	1
Adherence to nutritionist's guidelines n = 228
I follow all guidelines	44
I follow most guidelines approximately	43
I follow half of the guidelines approximately	9
I follow few guidelines	2
I don't follow anything	1
I don't regularly see a nutritionist	1
Financial impact of PKU. n = 228
Yes, because I have incurred significant costs from doctor visits, therapy and the purchase of special food	53
Yes, I had to stop working to take care of my child	41
Yes, because people in my family have stopped working to help me or to help our family member with the disease	8
Yes, because I had to hire someone to help me	6
No, because I am financially comfortable and the disease has not impacted my income	16
Prejudice due to PKU. n = 228
Yes	62
No	38
Brazilian Government preparation to assist PKU patients. n = 228
Very prepared	1
Somewhat prepared	37
Not at all prepared	62