Evaluation of the metabolic situation and nutritional state of adult patients with phenylketonuria (PKU)

Evaluation of the metabolic situation and nutritional state of adult patients with phenylketonuria (PKU) - Erw_PKU_2020

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00020953

Enrollment

Registered

2020-03-24

Start date

2020-05-01

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

E70.0 E70.1

Interventions

Group 1: Patients with PKU are asked to complete a questionnaire concerning their diet, medication and Quality of life.

Eligibility

Sex/Gender

All

Age

18 Years to 100 Years

Inclusion criteria

Inclusion criteria: Men and women with PKU who need treatment.

Exclusion criteria

Exclusion criteria: Informed consent not available.

Design outcomes

Primary

Measure	Time frame
Primary aim of the study is to evaluate the metabolic and nutritional status of adult patients with PKU by laboratory parameters, clinical data and data from a survey concerning diet, medication and nutritional supplements in daily life. Primary Parameters: - Metabolic Status: phenylalanine and tyrosine concentrations in DBS and Plasma - nutritional status: phenylalanine intake, intake of aminoacid mixtures and supplements	—

Measure

Time frame

Primary aim of the study is to evaluate the metabolic and nutritional status of adult patients with PKU by laboratory parameters, clinical data and data from a survey concerning diet, medication and nutritional supplements in daily life. Primary Parameters: - Metabolic Status: phenylalanine and tyrosine concentrations in DBS and Plasma - nutritional status: phenylalanine intake, intake of aminoacid mixtures and supplements

—

Secondary

Measure	Time frame
Secondary Parameters: - sociodemographic data (school, profession, income, marital status) - aminoacid profile - laboratory: Hb, Hkt, MCV, Ferritin, PTH, Ca, P, AP, Vitamin B12 - Quality of life - Metabolic and nutritional status during pregnancy and planning of pregnancy	—

Countries

Germany

Contacts

Public ContactDorothea Haas

Zentrum für Kinder- und JugendmedizinUniversitätsklinikum Heidelberg

dorothea.haas@med.uni-heidelberg.de+49 6221 564002

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026