Today,
over 50 different genetic diseases are recognized which specifically
involve defects in lysosomal function. Some, like Tay-Sachs,
are well known to many in our society, but others, like ML
IV or AGU, are known by only a handful of scientists, clinicians,
and families. Yet all of these diseases bear in common a
disturbance in the functioning of the recycling center of
cells known as the lysosome. And while each individual type
of lysosomal disease is rare, as a group lysosomal diseases
have an estimated incidence of 1 in 6,500 to 7,500 live births
which is only slightly less common that cystic fibrosis (CF),
one of the most frequently occurring genetic diseases affecting
children in the U.S.
An
alphabetical listing of known types of lysosomal diseases
is provided below, along with more detailed descriptions of
individual disorders.
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