Responsiveness to Sapropterin in Thai patient with Phenylketonuria Phenylketonuria, PKU, Sapropterin, BH4
Conditions
Interventions
Patients with Phenylketonuria who have serum Phylalanine level around 360-2,000 umol/L.,The neonates who are positive from newborn screening and suspected to be PKU in Siriraj Hospital.
Treatment,Treatment
Patients with underlying Phenylketonuria ,The neonates group.
Sponsors
Faculty of medicine Siriraj Hospital
Eligibility
Sex/Gender
All
Age
1 Hours to 18 Years
Inclusion criteria
Inclusion criteria: Thai patient with PKU who follow up in Faculty of Medicine Siriraj Hospital. The neonates who are positive from newborn screening and suspected to be PKU.
Exclusion criteria
Exclusion criteria: The patient's serum Phenylalanine level is lower than 360 umol/L or higher than 2,000 umol/L The PAH gene mutation is not identified in the patient. The patient deny the treatment by Sapropterin. The patient is older than 18 years.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| responsiveness to Sapropterin 2 days Phenylalanine level after Saproterin loading test / 30 % decrease of phenylalanine level is defined as sapropterin responsive | — |
Secondary
| Measure | Time frame |
|---|---|
| Genotype - phenotype relation 2 days Means, Median, 95% CI ,Change in protein of food intake. 6 months Protein and phenylalanine in food intake/ gram or milligram per day | — |
Countries
Thailand
Contacts
Public ContactNithivat Vatanavicharn
Faculty of Medicine Siriraj Hospital, Mahidol
Outcome results
None listed