Inborn errors of metabolism Organic acidurias Inborn errors of metaboliam Organic acidurias Maple syrup urine disease Isovaleric acidemia Proprionic acidemia Methylmalonic acidemia Medical food
Conditions
Interventions
Medical food, low branch chain amino acid protein powder, designed for each disease (MSUD, IVA, PA, MMA)
Experimental Dietary Supplement
Sponsors
Agricultural Research Development Agency of Thailand
Eligibility
Sex/Gender
All
Age
4 Years to No maximum
Inclusion criteria
Inclusion criteria: 1. Patients diagnosed with maple syrup urine disease, Isovaleric acidemia, proprionic acidemia, Methylmalonic acidemia treated and followed up at Ramathibodi Hospital 2. Aged 4 years and above 3. Clinically stable, no significant change in diet prescription during past 3 months
Exclusion criteria
Exclusion criteria: 1. Recent metabolic disturbance, unfavorable plasma amino acid level during 3 months before enrolment 2. Refuse to participate or withdraw from the study protocol during the study period
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| serum plasma amino acid T0 T1 T2 T4 T6 serum plasma amino acid | — |
Secondary
| Measure | Time frame |
|---|---|
| anthropometry T0 T1 T2 T4 T6 weight and length/height measurements,Clincal symptoms and signs T0 T1 T2 T4 T6 History and physical signs | — |
Countries
Thailand
Contacts
Public Contactoraporn Dumrongwongsiri
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Outcome results
None listed