sodium pyruvate therapy for the patients with citrin deficiency
Not Applicable
Recruiting
- Conditions
- citrin deficiency
- Registration Number
- JPRN-UMIN000004290
- Lead Sponsor
- Working group for citrin deficiency
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 30
Inclusion Criteria
Not provided
Exclusion Criteria
1) pregnant woman
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Adult onset type II citrullinemia (16 weeks later): 1) improvement of citrullinemia and hyperannmonemia 2) improvement of impaired consciousness. 3) improvement of QOL. Compensation period (16 weeks later): 1) improvement of citrullinemia and oxidative stress 2) improvement of QOL, 3) improvement of appetite habit. Neonatal intrahepatic cholestasis caused by citrin deficiency: 1) improvement of cholestasis and citrullinemia 2) catch up of body weight
- Secondary Outcome Measures
Name Time Method