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Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)


Address

3162 rue Granville
Jonquiere
Quebec, G7S 2B9 Canada

Phone

4185481580

Description

The Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec) is a non-profit organization in Quebec dedicated to providing information, assistance, and support to parents of children with hereditary tyrosinemia, a rare inborn error of metabolism of the amino acid tyrosine. The disorder, which is caused by deficiency of the enzyme fumarylacetoacetase, is inherited as an autosomal recessive trait. Associated symptoms and findings may become apparent soon after birth or during early childhood and may include liver and/or kidney dysfunction, neurologic abnormalities such as developmental delay and mental retardation, and/or other abnormalities. The Hereditary Tyrosinemia Group was established in 1989 and currently consists of approximately 100 members. The group provides referrals for genetic counseling, offers information on management of the disease, and promotes and supports research. In addition, the group holds regular meetings for members; provides networking services, enabling affected families to exchange mutual support, information, and resources; and offers educational materials including brochures.

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