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What are Lysosomal Storage Disorders? |
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Lysosomal storage disorders (LSDs)
are inherited disorders caused by a deficiency of
specific enzymes that are normally required for
the breakdown of certain complex carbohydrates known
as glycosaminoglycans (GAGs). If a specific lysosomal
enzyme is not present in sufficient quantities,
the normal breakdown of GAGs is incomplete or blocked.
The cell is then unable to excrete the carbohydrate
residues and they accumulate in the lysosomes of
the cell. This accumulation disrupts the cell's
normal functioning and gives rise to the clinical
manifestations of LSDs. |
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To date, the scientific community has identified nearly 50 types and subtypes of LSDs, and new types continue to be identified. Although the different types of LSDs are rare individually, when taken together they are estimated to affect about 1 in 7,700 births (Meikle, 1999), making them a relatively common and significant health problem.
All LSDs are progressive, with the rate of progression,
the severity of symptoms, and the organ systems affected
varying between disorders and even within each disorder
type. LSDs affect different body organs or systems
including the skeleton and joints, eyes, heart, lungs,
kidneys, skin, and frequently the central nervous
system. |
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All LSDs are inherited in an autosomal recessive
manner (both parents must be carriers of the abnormal
gene), except Hunter syndrome (MPS II) and Fabry disease,
which are X-linked recessive disorders. The highly
variable clinical presentation and the rareness of
each individual disorder frequently contribute to
missed or delayed diagnosis. Diagnosis of an LSD is
usually the result of a physician recognizing a pattern
of the various presenting symptoms; a definitive diagnosis
may take many years during which other possible conditions
are assessed and excluded. Specialized laboratories
offer the specific enzyme assays or mutation analyses,
which confirm or rule out the diagnosis of an LSD. |
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At present, there are no known cures for LSDs.
Progress, however, continues to be made toward finding
treatment options that go beyond treating the multiple
symptoms of the disease and aim to address the underlying
causes. Today, bone marrow transplantation and enzyme
replacement therapy are available treatment options
for patients with certain types of LSDs. Additionally,
the scientific community continues to conduct research
in the hopes of meeting the needs of patients suffering
from all types of this disorder.
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