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Galactosemia (GALT)

Classic Galactosemia (GALT) is an inherited metabolic disorder in which the body cannot properly process a sugar called galactose, which is part of lactose and present in foods containing milk. A build-up of galactose may initially cause symptoms in infants including feeding difficulties, lack of energy, weight loss, nausea and vomiting.  If left untreated, more [...]

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Tay-Sachs Disease

Tay-Sachs disease is an untreatable disorder that is always fatal. Children born with Tay-Sachs appear normal at birth but lack an enzyme needed to break down certain fats. The fats build up and destroy brain and nerve cells, leading to rapid mental and physical deterioration and death in early childhood. Approximately 1 in 27 Ashkenazi [...]

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Genetic Diseases

When you or a loved one is faced with a genetic disease it can be overwhelming, confusing and scary. Genetic disorders run in families. While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others. To find out more information on a specific disease, including [...]

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