HCU | HCU Network Australia

To be a driving force in the journey to a cure,
improving quality of life along the way.

Classical Homocystinuria (HCU) is a rare genetic disorder present from birth. In HCU, the body is unable to break down an amino acid called methionine. This causes a build up of methionine and another amino acid called homocysteine which affects the eyes, brain, bones and blood vessels and can cause serious health problems when untreated.

HCU Updates

Experience of diagnosis and patient satisfaction

There is currently limited evidence showing the considerable length of time taken i…

Growth patterns in Irish B6 non responsive homocystinuria patients

At last year's International Congress of Inborn Errors of Metabolism (ICIEM) Orla Pu…

Early Detection is Key for Rare Diseases

Dr Tawfeg Ben-Omran, Senior Consultant, Paediatrics at Hamad Medical Corporations (HM…

Events

28th February 2019

HCU Network Australia

On behalf of the organising committee, I would like to invite you to Rome, Italy, on Thursday 28th February - Friday 1st March 2019 for the 3rd International Homocystinurias Pat…

Videos

View HCU YouTube Channel

Who we are

HCU Network Australia is a Health Promotion Charity established in 2014 with the vision “to be a driving force in the journey to a cure, improving quality of life along the way.” Our aim is to achieve meaningful progress and improved health outcomes for the HCU community through supporting the patient and their families, reducing the barriers to accurate diagnosis and foremost supporting and encouraging research for improved treatments options and ultimately a cure.

Hayley's Story

My name is Hayley and I am 17 years old. I have B6 non-responsive homocystinuria, which means I am constantly taking medication and must maintain a low-protein diet. Although this can be difficult at times, I am alive and well. Having HCU has not stopped me from doing many of the things that other 17…

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Ronnie and Charlotte's Story

Our family live in London, UK. Our children Ronnie 6 and Charlotte 3 were diagnosed in November 2013. Ronnie had been under medical investigation for worsening learning difficulties and physical deformities. He had been admitted to our local neuro unit for a brain scan, lumber puncture bloods and urine tests. The Lp had caused him…

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Xander and Max's Story

In the UK where we live screening for Homocystinuria has only recently been added to mandatory new born screening. Our sons Xander, aged 7, and Max, aged 5, were diagnosed with Homocystinuria in August 2013. At the time our younger son was taken to the Children’s Hospital for an emergency EEG as he was…

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To be a driving force in the journey to a cure,
improving quality of life along the way.

HCU Updates

Experience of diagnosis and patient satisfaction