The effect of phenylalanine supplementation on metabolic control in Tyrosinemia Type 1 patients.
Completed
- Conditions
- Hereditary Tyrosinemia Type 1Metabolic Disease1002742410037008
- Registration Number
- NL-OMON43703
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 6
Inclusion Criteria
Diagnosed with Hereditary Tyrosinemia type 1
Treated with NTBC
Adequate dietary control (tyrosine concentrations: 200-600 µmol/L)
Exclusion Criteria
Tyrosinemia type 1 patients with intercurrent infections
Tyrosinemia type 1 patients who received liver transplantation
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The primary study parameters are phenylalanine and tyrosine concentrations.<br /><br>Their day to day variation (at specific time points) and variation throughout<br /><br>the day will be analysed. Next to this, mean phenylalanine and tyrosine<br /><br>concentrations with and without supplementation of phenylalanine will be<br /><br>analysed. </p><br>
- Secondary Outcome Measures
Name Time Method <p>The secondary outcome parameters are NTBC and succinylacetone concentrations.<br /><br>If doses of NTBC are high enough, it is hypothesized that the tyrosine<br /><br>degradation pathway is completely blocked. Thus, the metabolic product<br /><br>succinylacetone will not be formed. However, in regular patientcare increased<br /><br>succinylacetone concentrations are sometimes found. Thus, the question is<br /><br>whether NTBC concentrations are high enough during the complete day. Therefore,<br /><br>the variation of NTBC and the occurence of increased succinylacetone<br /><br>concentrations will be analysed. </p><br>