Classical Homocystinuria (CBS deficiency)
Conditions
Interventions
Patients (n=5) and controls (n=5) that accepted participate of the study will be oriented to attend at the study site after breakfast, being totally free of alcohol or tobacco in the last 48 hours. Th
Drug
Sponsors
Universidade Federal do Rio Grande do Sul
Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul
Hospital de Clínicas de Porto Alegre
Eligibility
Age
18 Years to 60 Years
Inclusion criteria
Inclusion criteria: Age over 18 years; for patients: molecular diagnosis of CBS deficiency
Exclusion criteria
Exclusion criteria: Patients with gastric, hepatic or kidney disease; smoking; illicit drug users;Acetaminophen or N-acetylcysteine hypersensitivity.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Increase in at least 30% in hepatic transaminases after Acetaminophen administration. ;Prevention of increase in liver damage biomarkers after N-acetylcysteine administration. | — |
Secondary
| Measure | Time frame |
|---|---|
| Increase in at least 30% in oxidative stress markers.;Increase of red blood cells glutathione in at least 30%. | — |
Countries
Brazil
Contacts
Public ContactIda;Soraia Doederlein Schwartz;Poloni
Universidade Federal do Rio Grande do Sul;Universidade Federal do Rio Grande do Sul
Outcome results
None listed