Lysosomal storage diseases are a group of around 40 different inherited diseases that affect children and adults. They share common patterns of biochemical and clinical defects. These disorders result mainly from enzyme abnormalities in the metabolism and catabolism of complex neurolipids and mucopolysacchari des. They are in a class of diseases called inborn-errors of metabolism -- in this case the error results primarily from the absence of an enzyme whose target is a substance to be discarded from cellular tissues. The buildup, or "storage," of such substances causes a loss of function in one or several crucial areas of the body. This may result in mental and physical disability or, in most cases, shortened lifespan.
The estimated incidence of lysosomal storage disorders in the Australian population is 1 in 5,000 births, leading to 50 new cases in Australia each year.