Patient’s thoughts and expectations about centres of expertise for PKU

Table 1 Characteristics of PKU patients provided by the correspondents

	Self-reported details of the PKU patients (n = 42)	Details of the PKU children of the parents/caregivers (n = 62)^a
Age
Median age	35 years	10 years
Age range	8–62 years^b	0–60 years ^c,d
Gender
Male	21.4% (n = 9)	19.4% (n = 12)
Female	78.6% (n = 33)	80.6% (n = 50)
Treatment
Protein restricted diet with amino acid supplements/ GMP	85.7% (n = 36)	79% (n = 49)
Protein restricted diet without amino acid supplements/GMP	0% (n = 0)	4.8% (n = 3)
No protein restricted diet but amino acid supplements/GMP	4.8% (n = 2)	0% (n = 0)
No protein restricted diet, no amino acid supplements/GMP	9.5% (n = 4)	0% (n = 0)
BH4 (Sapropterin, Kuvan©) and a protein restricted diet with amino acid supplements/GMP	0% (n = 0)	6.5% (n = 4)
BH4 (Sapropterin, Kuvan©) and a protein restricted diet without amino acid supplements/GMP	0% (n = 0)	1.6% (n = 1)
BH4 (Sapropterin, Kuvan©), no protein restricted diet but amino acid supplements/GMP	0% (n = 0)	1.6% (n = 1)
BH4 (Sapropterin, Kuvan©), no protein restricted diet, no amino acid supplements/GMP	0% (n = 0)	4.8% (n = 3)
Other, namely…	0% (n = 0)	1.6% (n = 1)^e

^aPlease note n = 56 of the responses were parents, n = 4 of the responses were grandparents who play a significant role in PKU care, n = 1 of the responses was a PKU patient and a parent of a PKU child, for n = 1 response the exact relationship to the PKU patient was unclear
^bRange 18–62 years, without 1 outlier of 8 years
^cRange 0–24 years, without 1 outlier of 60 years
^dn = 49;
^eBoth parent and child use a protein restricted diet with amino acid supplements

ISSN: 1750-1172