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

Recruiting

• Conditions: Classical phenylketonuria; Other hyperphenylalaninaemias; E70.0; E70.1

• Registration Number: DRKS00020953
• Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-03-24
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

Men and women with PKU who need treatment.

Exclusion Criteria

Informed consent not available.

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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. <br><br>Primary Parameters:<br>- Metabolic Status: phenylalanine and tyrosine concentrations in DBS and Plasma<br>- nutritional status: phenylalanine intake, intake of aminoacid mixtures and supplements

Secondary Outcome Measures

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