E70.0 E70.1
Conditions
Interventions
Group 1: Patients with Phenylketonuria:
Metabolic Control (Phe-concentrations in dried blood)
vitamin,- mineral- and fatty acid supply and further biochemical parameters e.g. amino acids, free carnitin from routine blood sample
Investigation of nutrition habits recorded on the basis of three dietary records
Therapy management (recorded by a self-developed questionnaire)
Evaluation of the risk for cardiovascular diseases (que
Beck depression inventory, Beck anxiety inventory)
fine motor skills, executive function, reaction time, working memory, measured by a computerized test battery
Group 2: Patients with mild hyperphenyalaninemia
Metabolic Control (Phe-concentrations i
fine motor skills, executive function, reaction time, working memory, measured by a computerized test battery
Sponsors
Universität Leipzig
Eligibility
Sex/Gender
All
Age
4 Years to No maximum
Inclusion criteria
Inclusion criteria: Patients with mild hyperphenylalaninemia or phenylketonuria patients of both sexes with a minimum age of 4 year. At the clinical/ study visit the patient is clinically healthy except for the mild hyperphenylalaninemia and phenylketonuria. written informed consent of patient or and parents/ legal representative
Exclusion criteria
Exclusion criteria: - Inability to fulfill study criteria - patients with psychiatric disorders - epilepsy - atypical phenylketonuria - blood loss of more than 500 ml in the last three months - severe allergic diathesis - severe organic diseases - acute diseases at the study visit, especially acute infections - Every chronic disease or results of surgery of gestive tract which may affected resorption, metabolism or excretion (e.g. pancreatic insufficiency, - Refusal to give consent - Other metabolic disorders except for mild hyperphenylalaninemia and phenylketonuria - Dystrophy (weight below the 5th percentile) - Implementation of other diets except for the phenylalanine restricted diet - Pregnancy or planned pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Metabolic control (as measured by dried blood phenylalanine concentrations – determinations means and range of variation) Retrospective (max. 10 years ago) and prospective survey of dried blood phenylalanine concentrations of PKU patients regularly followed in the outpatient’s clinic in Leipzig Determination of dried blood phenylalanine concentrations by liquid chromatography/ tandem mass spectrometry (LC-MS/MS) | — |
Secondary
| Measure | Time frame |
|---|---|
| - Nutrition habits recorded by the daily food intake as well as the daily intake of energy, protein, essential amino acids, phenylalanine, carbohydrates, fat, fatty acids( saturated ,mono-unsaturated, poly- unsaturated), cholesterol, phytosterole, fibre , vitamin C, D, E,K B1, B2, B6, B12, folic acid, Fe, Ca, Zn, Mg and iodine and their effect on the clinical outcome - Biochemical parameters: concentration of essential fatty acids(EFA), LC-PUFA, eicosanoids and platelet function, lipid state, cholesterol, LDL, HDL, triglyceride, Lp(a), Apo A, Apo B, -Plasma concentration of vitamin and trace elements, homocysteine, uric acid -„Therapy management“(recorded by a self-developed questionnaire) -Life-satisfaction (questionaire, FLZmodule) - Symptoms of anxiety and depression (Beck-anxiety inventory, Beck-depression inventory) in relation to metabolic control (Phe-concentration in dried blood) -plasma amino acids, phenylalanine in dried blood , free carnitine, long-chain acylcarnitine Acylcarnitine+ mid chain intermediate (routine measurement by tandem mass spectrometry) - Neurological outcome (fine motor skills, executive function, measurement by a computerized test battery) - Risk for cardiovascular diseases (questionnaire, Framingham-Risk-Score) -development and validation of a new method for determination of fatty acids and amino acids in plasma by tandem mass spectrometry | — |
Countries
Germany
Contacts
Public ContactAlena Thiele
Klinik und Poliklinik für Kinder- und Jugendmedizin Universitätsklinikum Leipzig AöR
Outcome results
None listed