Lysosomal Storage Disease

BY: RACHAEL ANDERSON

FOR

HONORS BIOLOGY
 Causes of Lysosomal Diseases

 There are about over 40 lysosomal

diseases.

 These diseases are caused by a

lack of enzymes that normally
eliminate unwanted substances in
the cells of the body.

 The enzymes are located in the

lysosomes, which act like a
‘recycling center’ in the cell.

 Lack of these enzymes causes a

build-up of unwanted substance,
resulting in abnormal storages that
cause insufficient functioning and
damage to the body’s cells.
 Effects of Lysosomal Diseases

 The diseases lead to a variety of

progressive physical and/or mental
deterioration over time.

 Some of the diseases may present in a

"mild" form, and others with a more
severe impact on the patient, such as a
swollen knee cap or clawed hand, just
like shown in the pictures.

 Some patients survive into adulthood,

but others with more severe symptoms
may die in their teens or earlier.
 Prognosis of LSD’s
 Lysosomal diseases also exist in
atypical forms or typical form.

 The typical form is where the

enzyme will be at very low or
undetectable levels, leading to the
full set of symptoms.

 The atypical forms is where there

may be a reduced level of enzyme
that leads to reduced presentation
of symptoms.

 The incident pf LSD’s is about 1 in

5,000 live births and the average life
expectancy across the whole group
is about 15 years
 Types of Lysosomal Disease
The 40 types of Lysosomal Diseases include:

 Fabry Disease - causes kidney and heart problems, pain and skin rashes.

 Gaucher Disease - causes the spleen to enlarge, anemia and bone lesions if
untreated.

 Hurler Syndrome - causes deformities of the skeleton and facial features,

enlargement of the spleen and liver, joint stiffness, clouding of the cornea,
mental retardation and deafness.

 Niemen-Pick B Disease - leads to enlargement of the spleen and liver, as well as

lung disease.

 Pomp Disease - an often fatal storage disease in which glycogen builds up in

the liver, heart and muscle, especially during infancy (also known as acid
maltase deficiency).

 Toy-Sachs Disease - a lysosomal storage disease that occurs more commonly

in people of Eastern European Ashkenazi descent and causes degeneration of
the brain in infants.
 Victim of a Rare Disease
 A victim of this inherited recessive trait is Jack
Peacock, a four year old boy that was diagnosed
with a genetic disease at 39 weeks, called Hunter
Syndrome.

 Hunter Syndrome was a disease so rare that there

were only two living boys in New Zealand today with
that disease.

 This type of disease have a prognosis to affect

both mentally and physically, by slowly and
painfully shutting down all of his cells, until his little
body could no longer cope.

 So far, Jack has needed medication for vomiting,

hearing aids, surgery on both hands, grommets
inserted, tonsils and adenoids removed, plus sleep
studies due to sleep apnea.

 There is no cure, so doctors can only treat the

symptoms as they occur.
 End of Presentation

Lysosomal Storage Disease

 Author: Rachael Anderson

 Publisher: Ms. Jennifer Kelley