citrin deficiency
Conditions
Interventions
1) Medicine: sodium pyruvate 2) Duration: 16 weeks, If patient hopes, it can continue. 3) Amount: 100~300 mg/kg/day 4) Number:2~3 times/day after eating orally
Sponsors
Department of Pediatrics, Kobe university Graduate School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) the patients with CTLN2 2) the patients with symptoms of easy fatiqability growth retardation and hypoglycemia in compensation period. 3) the patients with severe hepatic damage by NICCD. 4) the patients with informed concecnt by document was proved.
Exclusion criteria
Exclusion criteria: pregnant woman
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Adult onset type II citrullinemia 1) improvement of citrulllinemia and hyperannmonemia 2) improvement of impaired consciousness 3) improvement of QOL Compensation period 1) improvement of citrulllinemia and oxidative stress 2) improvement of QOL 3) improvement of appetite habit Neonatal intrehepatic cholestasis caused by citrin deficincy 1) improvement of cholestasis and citrullinemia 2) catch up of body weight | — |
Countries
Japan
Contacts
Public ContactHiroyuki AWANO
Kobe University Graduate School of Medicine Department of Pediatrics
Outcome results
None listed