Table 7 Summary of clinical practice recommendations and issues to be addressed in future (prospective) 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