Classical Homocystinuria (HCU) is a rare genetic disease that when misdiagnosed or untreated adversely impacts quality of life and mortality. Approximately 25 per cent of untreated affected individuals do not live past their 20s with others experiencing reduced quality of life.
Homocystinuria is a metabolic disease affecting the trans-sulfuration pathway or methylation pathway. Classical Homocystinuria, the most common form of Homocystinuria, is caused by a deficiency in the enzyme known as Cystathionine Beta-Synthase (CbS). The lack of the enzyme prevents the body from processing methionine, an essential amino acid, from food containing protein. As a result toxic levels of harmful substances accumulate in the body and cause serious health problems.
There are multiple forms of Homocystinuria, each distinguished by their clinical signs and symptoms and underlying genetic basis.
Classical Homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The incidence of the rarer forms of Homocystinuria are unknown.
Homocystinuria is progressive and affected individuals suffer multi-systemic disorder of the central nervous system (CNS), ocular, skeletal, and cardiovascular system. Symptoms are highly variable but include intellectual disability, developmental delay and learning difficulties, psychiatric disturbances, behavioural problems, dislocation of the lens of the eye resulting in blindness if untreated, seizures, osteoporosis and skeletal abnormalities, premature heart attack and stroke. As a whole, the complications of the disease lead to a reduced quality of life and significantly shorter life expectancy.
No cure has been discovered for Homocystinuria. However, nearly one half of individuals affected with Homocystinuria benefit from Vitamin B6 supplementation. For the remainder, the current mainstay of treatment is a strict low protein diet coupled with supplementation with B6, B12, folate, and Betaine together with a ‘medical formula’. This treatment regime aides in the restoration of metabolic balance in the affected individual.
Focus of treatment in the newborn period is to ensure the development of normal intelligence and the prevention of the development of other complications of the disease. When treatment is commenced later, the aim is to prevent further escalation of the complications already present.
HCU Disease Checklist – Homocystinuria: A treatable disorder
The HCU Disease Checklist provides a comprehensive list of the key warning signs and symptoms of classical homocystinuria. Download the checklist to assess whether your child has any of the signs and symptoms commonly associated with the disorder.
Speak with your doctor about your child’s symptoms and take the HCU Disease Checklist along to your next appointment.
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. Click on the link to download.
Classical Homocystinuria for adults, parents and carers
The European Network and Registry for Homocystinurias and Methylation Defects has prepared two an information booklet on homocystinurias and related diseases for adults, parents and carers. Click on the link to download.
The European Network and Registry for Homocystinurias and Methylation Defects has prepared an information booklet on homocystinurias and related diseases for children of school age. Click on the link to download.
The Inborn Error of Metabolism (IEM) Programme is available through the Commonwealth Department of Health. The program provides monthly financial assistance to approved grantees who are on a low protein diet for a metabolic condition. The purpose of the grant is to assist with the purchasing of low protein foods to enable people with an IEM to stay on strict diets. Non-food items, such as medications and supplements, cannot be purchased with money provided under the Programme.
Prof. Ida Vanessa D. Schwartz and Matheus Wilke from the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil have prepared an information booklet on Classical Homocystinuria. It is available in English, Spanish and Portuguese.
The Recordati Rare Disease Foundation supports the 1st Patient & Expert Meet in Prague on Rare Disease Day, 29th February 2016. The Patient & Expert Meet will bring together key stakeholders, such as patients, clinicians and researchers, from across the world to help increase awareness and improve education about homocystinuria, methylation defects and folate defects.…
Most people with the disease can’t eat meat, dairy, bread or fish, but their little bodies need protein to grow. – Tara Morrison MOST parents keep an eye on what their children eat. Picture: CARMELA ROCHE Connor, 6, and Lincoln, 2, with mum Tara Morrison.But when your two boys could die if they eat meat,…
WHEN Castle Hill’s Tara Morrison and her team of runners start the 9km course in the Sydney Running Festival, it will be a significant moment for the group. Picture: PETER KELLY Tara Morrison trains for the running festival. Mrs Morrison and her husband Ryan started their charity HCU Network Australia a couple of months ago,…
To the individuals and families who bravely share their story, and inspire others along the way to do the same, we thank you.
Submit a story
Regardless of whether you are an individual affected by HCU, a carer, family member, friend or volunteer we would love you to share your story. Sharing your story helps to strengthen the HCU community and to share experiences. Share your story today and make a difference.
We are delighted that our HCU patient diagnosis bags have now been distributed to the Australian clinics for current and newly diagnosed patients.
A diagnosis of a rare disease can change a family’s life. This initiative seeks to provide practical support to alleviate some of the emotional stress and isolation experienced by the individual and their families at the time of diagnosis.
We invite you to take a look inside the HCU Bag. It contains:
· HCU Network Australia brochure
A brochure designed to give general information about Homocystinuria and HCU Network Australia aims and objectives.
· AccuGo Smartphone App brochure
The brochure illustrates the features and functionality of AccuGo for HCU. AccuGo is designed to ease the day to day management of the low protein diet and is a service provided by HCU Network Australia.
· Postcard inviting patients to register online
This postcard is designed to increase the visibility of the organisation and invite individuals to register their contact email to be kept updated of the latest news and events.
· HCU Network Australia portfolio
Overtime patients and/or parents accumulate extensive medical letters, reports and results. The portfolio is designed to collate all of the documentation so that it is at hand when needed. Tabs include blood results, reports, metabolic correspondence, specialist correspondence and notes.
· HCU Network Australia branded soft plush ‘Hugo’ the rare rhino
For the younger patients our branded soft plush rhino is included for comfort.
The homocystinuria infographic provides an overview of homocystinuria, diagnosis, symptoms and treatment. You can download a copy of the infographic to share or display in your clinic or hospital.
Oprhan Europe’s HCU infographic video for Healthcare Professionals provides an overview of the epidemiology, pathophysiology, clinical manifestations and diagnosis of the rare disease. Due to the similarity of symptoms to other more common illnesses HCU is often overlooked. Click through to Orphan Europe’s website for the infographic video and more information about HCU.
Accugo for HCU was designed to ease the day to day management of the low protein diet by providing a quick and easy way to estimate and track protein or methionine in food eaten. It provides easy access to the protein and methionine content of foods including preloaded data and a community database of shared food. Developed by AccuGo and sponsored by HCU Network Australia for the HCU community.
Cook for Love is a culinary non-for-profit dedicated to the PKU community. Their mission is to empower members of their community to improve their health through cooking and education. Their goal is to dispel the myth that, given severe dietary restrictions, people on low protein diets must settle for less.
The Steve Waugh Foundation is committed to a coordinated approach to the service, identification, treatment and research of rare diseases to improve the quality of life of children affected by rare diseases.
The Genetic and Rare Disease Network is a not for profit organisation that acts as a peak body for genetic and rare disease support groups in Western Australia, working to empower individuals and their families to reach positive health outcomes. They inform health professionals and the wider community on the perspectives and experiences of those affected by genetic and rare diseases. They connect key stakeholders and service providers with people affected by genetic and rare diseases.
Global Genes is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Their Mission is to eliminate the challenges of rare disease by building awareness, and providing critical connections and resources to positively impact affected patients and families.
The Australasian Society for Inborn Errors of Metabolism
The Australasian Society for Inborn Errors of Metabolism was founded in 1992 as a special interest group of HGSA bringing together, laboratory scientists, metabolic physicians, nurses and dietitians involved in the diagnosis and treatment of inborn errors of metabolism. The society has produced a number of dietary handbooks and has an active laboratory educational role through the distribution of rare samples to participating biochemical genetics laboratories.
The Metabolic Dietary Disorders Association is a national self-help group supporting people affected by genetic, otherwise known as inborn, errors of metabolism. Their aim is to offer families a comprehensive resource of information and support. They provide members and their family’s forums to share experiences and information, to educate themselves and the general community about living with an inborn metabolic dietary disorder. The MDDA fosters co-operative relationships between members, healthcare professionals, government departments and other agencies to promote the health and well-being of members.
RVA is Australia’s national organisation advocating for those who live with a rare disease. RVA provides a strong common voice to promote for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia.
Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
CLIMB is a United Kingdom organisation working on behalf of children, young people, adults and families affected by metabolic disease. The National Information Centre for Metabolic Diseases is part of the Climb Group. Climb (Children Living with Inherited Metabolic Diseases) is the United Kingdom’s foremost provider of free metabolic disease information to young people, adults, families, professionals and other interested groups. Their vision is to provide Metabolic Disease specific information, advice and support to children, young people, adults, families and professionals in the United Kingdom and to provide information and support to families worldwide, to fund educational and primary research programmes and to investigate treatments and medical services.
The National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is an American federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
Genetic Alliance is one of the world’s leading nonprofit health advocacy organizations. Its network includes more than 1,200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. The network is a dynamic and growing open space for shared resources, creative tools, and innovative programs.
Nutricia Australia is a division of the French multinational company, Group Danone. Nutricia is recognised as the leader in specialised nutrition and operates in a unique position in the global market as the only company whose entire business is based on nutritional products and support for all age groups.
Vitaflo® are at the forefront of developing innovative specialised clinical nutrition products for Metabolic Disorders. Vitaflo’s aim is to create products that combine the best of cutting edge research with the lifestyle demands of modern living, ensuring the most acceptable products are available for the patient. Vitaflo Australia Pty Ltd distributes products throughout Australia.
There are two closed Facebook Support Groups for Homocystinuria. They provide valuable online support for families and individuals affected by Homocystinuria. Members include individuals affected by HCU, parents, partners and spouses that support those affected.
Homocystinuria is a rare, autosomal recessively inherited metabolic disorder. The most common form of the disorder is known as classical homocystinuria and is caused by a missing enzyme known as Cystathionine Beta-Synthase (CBS). This enzyme defect causes a progressive accumulation of homocysteine to toxic levels in the blood. When untreated this disorder is life threatening and has detrimental effects on the brain, the eyes, the skeleton and the vascular system.