methylmalonic acidemia. E71.120
Conditions
Interventions
Intervention group:.
Sponsors
Mashhad University of Medical Sciences
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: patients with isolated methylmalonic acidemia or methylmalonic acidemia with hemocyctinuria confirmed in MS/MS and urine organic acid or genetic
Exclusion criteria
Exclusion criteria: suspicious patients that have not certain diagnosis and poor control patients that have not cooperation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Decrease more than 50 percent in urine methylmalonic acid considered positive and the patient is responsible to hydroxycobalamine. Timepoint: urine methylmalonic acid before starting the intervention and then 3 days after received hydroxycobalamine in stable patients and after 7 days in unstable patients. Method of measurement: evaluation of urine methylmalonic acid. | — |
Countries
Iran (Islamic Republic of)
Contacts
Public Contactafsane nazari
Mashhad University of Medical Sciences
Outcome results
None listed