Metabolic Medicine

Who we are

The Metabolic Medicine department at PCH provides diagnostic services and care to children with genetic metabolic disorders and manages follow-up care for newborn babies diagnosed through the WA Newborn Screening Program (external site).

Conditions we manage

We see patients with a large variety of genetic metabolic disorders, including:

  • disorders of fat metabolism
  • protein metabolism
  • carbohydrate metabolism
  • transport defects
  • lysosomal and peroxisomal disorders

Services we provide

Our clinical team sees patients who are referred by paediatricians, neurologists and other community or hospital health providers. We also see patients who are admitted to PCH under other departments.


All Specialist Rooms, GP’s and WACHS referrers are being advised to direct all non-urgent referrals for PCH outpatient services to the Central Referral Service.  


  • New referrals will be assessed against the eligibility guidelines and prioritised according to medical need.
  • Referrals from Nurse Practitioners, other non-medical referrers and private hospitals (including those with a private-public partnership) are to be directed to PCH Referral Office.
  • All urgent referrals are to be sent to the PCH Referral Office.
  • Urgent referrals must always be discussed with the PCH Consultant / Registrar on call before the referral is sent.
  • The referral needs to include the name of the Consultant/ Registrar the referrer spoke to.
  • Each referral is to be faxed individually.

PCH switchboard

6456 2222

PCH Referral Office fax

6456 0097 

PCH Referral Office email


Inpatient: 24 hours a day, seven days a week.

Outpatient: Monday, 2.00pm - 5.00pm


The Metabolic Medicine outpatient clinic is in Clinic B on the Ground Floor.

Contact us 

Phone: 6456 2222 (PCH switchboard) 

Fax: 6456 2007