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GENETIC ILLNESS
Krabbe's disease
Posted Tue, 30 May 2000

Question

What is Krabbe's disease?

Answer

Krabbe's disease is one of a rare, inheritable group of diseases known as lipidoses, which are disorders of lipid metabolism due to deficiencies in the enzymes which digest lipids. Others include Tay-Sachs Disease, generalised gangliosidosis and sulfatide lipidosis. Krabbe's disease, also known as galactosylceramide lipidosis, is a fatal disease, which occurs in infancy. The symptoms are progressive retardation, paralysis, blindness and deafness. It is due to a deficiency of the enzyme galactocerebroside ß-galactosidase. These can be tested for prenatally by sampling amniotic fluid or the chorionic villi. There is no treatment yet known.

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