Table 7.
Summary of clinical practice recommendations and issues to be addressed in future (prospective) studies
| Clinical practice recommendation | Issues to be addressed in future studies | |
|---|---|---|
|
Diagnosis |
•NBS via SA to avoid sequelae including HCC |
|
|
Treatment & Monitoring |
•NTBC & diet |
•Calculation Tyr & Phe vs protein restriction |
| •NTBC-level 20-40 μM |
•NTBC-target level |
|
| •Tyr-level < 400 μM |
•Tyr-target level |
|
| •SA below detection limit |
•SA target level |
|
| •Contrast enhanced ultrasound & AFP |
•Correlation NTB-levels & side effects |
|
| •Liver & Kidney function |
•NTBC- pharmacokinetics in children |
|
|
Liver transplantation |
•HCC |
•NTBC & diet if SA-elevation post transplant |
| •Therapy resistance | ||
|
Outcome |
•Psychomotor/neurocognitive assessment |
•Pathophysiology of neurological damage and risk factors |
| •Definition of adequate test battery | ||
| Reimbursement | •Diagnosis & Treatment & Monitoring |