Residual galactose oxidation capacity and galactosylation abnormalities as possible predictors for galactose tolerance and outcome in patients with galactose-1-phosphate uridyltransferase deficiency
Completed
- Conditions
- Classical galactosemiagalactose-1-phosphate uridyltransferase deficiency1002742410021605
- Registration Number
- NL-OMON46279
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 40
Inclusion Criteria
GALT enzyme activity <15% of healthy controls and/or
two null or severe missence variations in the GALT gene
Exclusion Criteria
individuals with swallowing difficulties will be excluded from part B1 (galactose breath test) of the study
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method