Patient Information Booklet & Quick Guide

Patient Information Booklet & Quick Guide


HCU Network Australia is excited to announce the release of two new resources, the Classical Homocystinuria Patient Information Booklet and Quick Guide. These new resources were produced by HCU Network Australia as a part of our continued commitment to improve health outcomes through education, research and support.  The goal of these new resources is to help the patient, their family or caregiver understand more about classical homocystinuria, how it is diagnosed and the therapies it requires.

The Patient Information Booklet and Quick Guide have been endorsed by the Australasian Society for Inborn Errors of Metabolism (ASIEM) executive.

To view and download the new Patient Information Booklet & Quick Guide enter your email below.


The Patient Information Booklet is based on the published Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency – written for doctors and other medical specialists as a practical guide to the recognition, diagnosis and management of HCU.  HCU Network Australia has worked to incorporate these guidelines with other relevant information into one document for people with HCU to read and share with others. A Quick Guide summarises key points from the Patient Information Booklet.

We hope that after reading the booklet you will understand more about HCU – what it is, how it is diagnosed, what tests are needed and what other health conditions are linked to HCU. Understanding more about the disorder may help you cope more easily with the condition, as well as helping you discuss tests and treatments with your medical care team.


HCU Network Australia would like to acknowledge the assistance of the following people for their insight and expertise in preparing and reviewing this booklet:

  • Professor Viktor Kožich: Department of Pediatrics and Adolescent Medicine, General University Hospital, Prague, Czech Republic
  • Dr Andrew Morris: Central Manchester University Hospital, Manchester, United Kingdom
  • Sue Thompson: Genetic Metabolic Disorders Service, The Children’s Hospital at Westmead, Sydney, Australia.
  • Professor Bridget Wilcken: Genetic Metabolic Disorders Service, Sydney Children’s Hospital Randwick, Sydney, Australia.

HCU Network Australia gratefully acknowledges Emerge Health Pty Ltd and Orphan Technologies Ltd for their support in making available these resources.  HCU Network Australia independently developed the Patient Information Booklet and Quick Guide. Our supporters did not participate in the development of the Patient Information Booklet and Quick Guide and are not responsible for the content and recommendations contained therein.