BH4 deficiency

Information for health professionals supplying Sapropterin for treatment of tetrahydrobiopterin (BH4) deficiency based on clinical and laboratory grounds.

Restriction details

The Schedule of Pharmaceutical Benefits on the PBS website outlines restrictions for prescribing BH4 deficiency.

All patients must have:

  • hyperphenylalaninaemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, and
  • documented BH4 deficiency using tests for BH4 loading and/or urine pterin metabolites, blood spot dihydropteridine (DHPR) and have cerebrospinal fluid neurotransmitter metabolites measured

Schedule item details

Dose - Sapropterin is available as 100 mg soluble tablet. The starting dose is 2 to 5 mg/kg body weight once daily.

Patient eligibility

Patients must meet the relevant criteria as indicated in the restrictions and be eligible for the Pharmaceutical Benefits Scheme.

Test requirements

A copy of the relevant pathology reports confirming the presence of hyperphenylalaninaemia (HPA) due to tetrahydrobiopterin (BH4 deficiency) documented BH4 deficiency using tests for:

  • BH4 loading and/or urine pterin metabolites
  • blood spot dihydropteridine reductase (DHPR), and
  • cerebrospinal fluid neurotransmitter metabolites

Lodging an application

Send all written applications to Complex drugs address on the contact us page.

Further information

For more information contact us on the Complex Drug Enquiry line.

Page last updated: 8 November 2016

This information was printed Saturday 3 December 2016 from humanservices.gov.au/health-professionals/enablers/bh4-deficiency It may not include all of the relevant information on this topic. Please consider any relevant site notices at humanservices.gov.au/siteinformation when using this material.