Hyperphenylalaninaemia in phenylketonuria (PKU)

Updated: December 19, 2025

Background

Epidemiology

Anatomy

Pathophysiology

Etiology

Genetics

Prognostic Factors

Clinical History

Physical Examination

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

sepiapterin

The recommended dose is 60 mg/kg/day orally once daily
If the maintenance dose is 1,000 mg or more, the total daily amount should be adjusted to the closest multiple of either 250 mg or 1,000 mg, whichever is more applicable.

sepiapterin

For infants from birth to less than 6 months of age, the recommended dose is 7.5 mg per kilogram per day. For those aged 6 to less than 12 months, the dose is 15 mg/kg/day. Children aged 12 months to less than 2 years should receive 30 mg/kg/day, while those aged 2 years and older are recommended a dose of 60 mg/kg/day.

Future Trends