van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet J Rare Dis. 2017 Oct 12;12(1):162.
The European Guidelines were written by European specialists in the field of PKU. The goal of these European guidelines is to offer a standard for diagnostics, treatment and care in PKU that should lead to optimal clinical and neuropsychological outcome without overtreatment and unnecessary costs. The guidelines include 70 statements about PKU care based on available evidence and almost 500 scientific publications have been covered. They discuss every aspect of PKU care, including pregnancy and use of sapropterin (BH4). The guidelines are intended to be used by metabolic physicians, dietitians, obstetricians, midwives, psychologists, social workers, biochemists and other professionals involved in the treatment of patients with PKU.