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Lysosomal Storage Disorders


Pompe Disease

This disease affects many different parts of the body.  It is considered a lysosomal storage disorder because those with Pompe have lysosomes that cannot break down certain types of complex sugars.  This causes the sugar molecules to build up in cells throughout the body, resulting in a variety of symptoms.  Classic infantile-onset Pompe symptoms include muscle weakness, enlarged heart, and difficulty breathing.

Screening Method:

Flow injection mass spectrometry (FI/MS)

Treatment:

enzyme replacement therapy, physical therapy, respiratory therapy, and dietary treatments

Incidence:

1 in 40,000 births

Fabry Disease

This disease is a condition in which the body is unable to break down certain fats.  This causes undigested fat molecules to build up in lysosomes in cells throughout the body.  Fabry can cause episodes of pain, progressive kidney damage, heart attack, and stroke.

Screening Method:

Flow injection mass spectrometry (FI/MS)

Treatment:

dietary treatments, pain management, and supplements including enzyme replacement therapy.

Incidence:

1 in every 40,000-60,000 males

Hurler Syndrome

This syndrome, also known as mucopolysaccharidosis type I (MPS I), affects many different parts of the body because those with Hurler syndrome cannot break down certain types of complex sugars.  The undigested sugar molecules build up in the body's cells and cause symptoms such as umbilical hernia, macrocephaly, developmental delays, and hearing loss.

Screening Method:

Flow injection mass spectrometry (FI/MS)

Treatment:

Physical thereapy, surgery to remove tonsils and adenoids, dietary changes, enzyme replacement therapy, and hematopoietic stem cell transplantation (HSCT)

Incidence:

1 in 100,000 newborns (severe MPS I)

1 in 500,000 newborns (attenuated form)

Hunter Syndrome

This syndrome, also known as mucopolysaccharidosis type II (MPS II), affects many different parts of the body because those with Hunter syndrome cannot break down certain types of complex sugars.  The undigested sugar molecules build up in the body's cells and cause symptoms such as distinctively large facial features, enlargement of vocal cords, frequent upper respiratory infections, poor vision, and macrocephaly.

Screening Method:

Flow injection mass spectrometry (FI/MS)

Treatment:

Enzyme replacement therapy, physical therapy, surgery including removal of tonsils and adenoids, and diet changes.

Incidence:

1 in 100,000 to 1 in 170,000 males

Morquio Syndrome

This syndrome is a rare condition that affects the bones, spine, organs, and physical abilities.  Those with this syndrome do not produce enough enzymes to break down sugar molecules.  These molecules accumulate in cells, blood, tendons, and ligaments and cause damage over time.  Symptoms include scoliosis, "knock knees", heart and vision problems, and enlarged liver.

Screening Method:

Flow injection mass spectrometry (FI/MS)

Treatment:

Surgeries to correct scoliosis and leg deformities and enzyme replacement therapy.

Incidence:

1 in 200,000 births