Guidelines

ASIEM Low Protein Handbook

Members of the Australasian Society for Inborn Errors of Metabolism (ASIEM) have produced a handbook to aid families in the treatment of Homocystinuria. The handbook contains information relevant to the management of HCU.


Download the ASIEM Low Protein Handbook for Homocystinuria
English Version
Greek Version

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

The Guidelines for diagnosis and management of CBS deficiency are recommendations based on a systematic review of the literature. The guidelines aim to be a practical guide to the recognition, diagnosis and management of CBS deficiency and are designed to be used by healthcare professionals.


View the Guidelines here

Classical Homocystinuria Patient Information Booklet & Quick Guide

HCU Network Australia has worked to incorporate the Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency with other relevant information into one document for people with HCU to read and share with others. The Booklet aims to help the reader (the patient, their family or caregiver) understand more about classical homocystinuria, how it is diagnosed and the therapies it requires. The Quick Guide summarises key points from the Patient Information Booklet.


Download the Patient Information Booklet
English version
Portuguese version

Download the Quick Guide
English version
Portuguese version