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Homocystinuria

Homocystinuria is an inherited metabolic disorder involving the way the body processes methionine, an amino acid. Amino acids are the building blocks of proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause.

The signs and symptoms typically develop within the first year of life, although some people with a mild form of the disease may not develop features until later in childhood or adulthood.

Recordati Rare Diseases is supporting the European Registry and Network for homocystinuria and methylation defects. Recordati Rare Diseases has also developed information for patients and families.

With proper drug treatment, homocystinuria progression can be halted or symptoms can be reduced.

 

Patient organisations:

Our list of patient organisations may be incomplete. Please help us keep this updated by contacting us

  • Australia
    HCU Network Australia -  www.hcunetworkaustralia.org.au
  • Belgium
    Belgische Organisitie voor Kinderen en Volwassenen met een Stofwisselingsziekte -  www.boks.be
  • Croatia
    Association for support for families affected by phenylketonuria - www.fenilketonurija.hr
  • Czech Republic
    National Association for PKU and other inherited metabolic disorder - www.nspku.cz
  • Denmark
    PND - Protein nedbrydningsdefekt foreningen - www.pnd-foreningen.dk
  • France
    Les Enfants du Jardin - Association d'aide aux parents d'enfants atteints de maladies héréditaires du métabolisme traitées par régimes hypo protéinés - www.lesenfantsdujardin.fr
    ​Les Feux Follets - Association de parents d'enfants et d'adultes atteints de maladies héréditaires du métabolisme - www.phenylcetonurie.org
  • Germany
    DIG PKU - Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen e.V. - www.dig-pku.de
    Kindernetzwerk - www.kindernetzwerk.de
  • Greece
    PASIFASMEN - Hellenic Association of Friends and Patients with rare metabolic and endocrinologic diseases - www.pasyfasmen.gr
  • Ireland
    Inclusion Ireland – www.inclusionireland.ie
  • Italy
    ABM - Associazione per la Tutela del Bambino con Malattie Metaboliche - www.abm-metaboliche.it
    AMMeC - Associazione Malattie Metaboliche Congenite – ONLUS - www.ammec.it
    META - Associazione Malattie Metaboliche Ereditarie del Piemonte e Valle d'Aosta - www.meta-piemonte.it
    AISMME - Associazione Italiana Sostegno Malattie Metaboliche Ereditarie ONLUS - www.aismme.org/
    COMETA ASMME - Associazione Studio Malattie Metaboliche Ereditarie – ONLUS - www.cometaasmme.org
  • UK
    CLIMB – Children Living with Inherited Metabolic Diseases – www.climb.org.uk
  • USA
    HCU Network America - www.hcunetworkamerica.org

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