Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficiency. The study will determine normal values for age (0-18) for PREPL activity in blood. Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated for PREPL activity in blood. A last part of the study will involve muscle biopsies during elective anesthesia/surgery for other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery (patients). The control group will be age-matched to the hypotonia group. In the muscle biopsies, PREPL activity and expression will be evaluated.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
125
Blood draw
Muscle biopsy during planned anesthesia/surgery
UZLeuven
Leuven, Belgium
PREPL activity (ng active PREPL/g protein) normal values in blood
normal values for PREPL activity
Time frame: 3 months
PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
Comparison of PREPL activity in blood and muscle between above mentioned groups
Time frame: 3 months
PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls
Comparison of PREPL activity in blood between above mentioned groups
Time frame: 3 months
PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls
exploratory evaluation
Time frame: 3 months
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