Clinical characteristics and management of Spanish adult patients with phenylketonuria;

Autores de IIS La Fe

• Patricia Correcher Medina

  Autor

Participantes ajenos a IIS La Fe

• Martínez Olmos M.A.
• Venegas Moreno E.
• Morales Conejo M.
• Ceberio Hualde L.
• Pérez B.
• de Tallo Forga M.
• Pérez-Sádaba F.J.

Grupos

• Nutrición y Metabolopatías

• Perinatología

Abstract

Objectives: To describe the sociodemographic and clinical characteristics and management of patients with phenylketonuria (PKU) followed in centres, services, and reference units (CSUR) or clinical excellence units specialised in inborn errors of metabolism (IEM). Additionally, to determine patients’ health-related quality of life (HRQoL). Methods: Observational, cross-sectional, descriptive study conducted with Spanish PKU patients attending CSUR centres or clinical excellence units specialised in IEM during the study period. Results: The study included 55 patients (54 adults and one teenager) with different PKU phenotypes. The mean (SD) age was 32.1 (9.7) years, with 69.1% women. The most frequent phenotype at diagnosis was classical PKU (67.3%). Mean (SD) plasma Phe levels at diagnosis were 901.9 (606.1) µmol/L and 422.8 (288.9) µmol/L in the last year. Neurological symptoms were present in 23.6% of patients, the most frequent being intellectual disability (21.8%). Psychological symptoms were present in 34.5% of patients, the most frequent being anxiety (14.5%) and depression (12.7%). Of the patients, 85.5% responded to the EQ-5D-5L questionnaire. Of these, 44.7% of patients reported no anxiety or depression, while 34.0% had mild anxiety or depression. The mean (SD) EQ-VAS value was 80.9 (15.2). Forty-one (74.5%) patients responded to the PKU-QoL questionnaire. The results indicated that PKU patients perceived the impact of their disease to be moderate across all domains included in the questionnaire. Conclusions: Adults with PKU may experience neurological or psychological symptoms including intellectual disability, anxiety, and depression. However, their HRQoL was found to be good and comparable to that of the general population. © 2025 The Authors. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license. http://creativecommons.org/licenses/by-nc-nd/4.0/

Keywords

• Adolescent; Adult; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Phenylketonurias; Quality of Life; Spain; Young Adult; phenylalanine; adult; amino acid blood level; anxiety disorder; Article; clinical feature; cross-sectional study; depression; descriptive research; European Quality of Life 5 Dimensions 5 Level questionnaire; European Quality of Life 5 Dimensions Visual Analogue Scale; female; human; inborn error of metabolism; intellectual impairment; major clinical study; male; neurologic disease; observational study; phenotype; phenylketonuria; quality of life; questionnaire; sociodemographics; Spaniard; adolescent; complication; diagnosis; middle aged; phenylketonuria; psychology; Spain; therapy; young adult