Phenylketonuria (PKU) and Hyperphenylalaninemia
Conditions
Brief summary
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements. In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues. Study participants do not undergo any specific therapeutic or diagnostic intervention.
Interventions
None listed
Sponsors
University of Zurich
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* PKU (Phenylketonuria) or hyperphenylalaninemia * male or female, minimum age 16y * signed informed consent
Exclusion criteria
\- patient who can not comply with the study protocol (e.g. unable to fill in questionnaires by themselves or a representative)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days) | assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic | Assessed nutrients: Macronutrients: protein, fat, carbohydrates in g/kg/d Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium Vitamins: D, B12, B6, C, folic acid |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Phenylalanine level (umol/l) | assessed at the end of the four-day nutrition protocol (see primary outcome) | this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient) |
| Plasma amino acid profile | determined at a routine visit at the outpatient clinic, on average 1x per year | this outcome measure is not study-specific and is collected as part of established routine care. |
| Concentrations of micronutrients, minerals and vitamins | determined at a routine visit at the outpatient clinic, on average 1x per year | assessed parameters: Ferritin, zinc, selenium, vitamin D, vitamin B12, folic acid. These outcome measures are not study-specific and are collected as part of established routine care |
| body weight (kg) | determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months | assessed as part of routine clinical care |
Countries
Switzerland
Outcome results
None listed