Lysosomal Storage Disorders Program

Head to toe, we’re made of trillions of cells. There are many different types of cells, and they are like tiny factories that make products our bodies need to develop and function properly.

Lysosomes are found in nearly every cell in the body and act as recycling centers, breaking down large molecules into smaller ones that can be reused throughout the body. This recycling process is done by a protein called an enzyme. There are many different enzymes in the lysosome, and each one has a specific type of molecule it breaks down.

Lysosomal storage disorders (LSDs) are a group of genetic conditions that disrupt the breakdown of certain molecules into smaller ones. When a molecule is not broken down, it builds up in the lysosome, disrupting the cell and causing damage to certain tissues and organs. The specific tissues and organs affected depend on the type of lysosomal storage disorder.

Lysosomal storage disorders include:

• Acid Sphingomyelinase Deficiency (ASMD)
• Fabry disease
• Gaucher disease
• Mucopolysaccharidoses
• Pompe disease
• And many others

The goal of our Lysosomal Storage Disease Program is to manage and treat patients from birth through adulthood. Supportive staff members are available to assist patients and families with their medical, emotional, and social needs.

Newborn Screening for Lysosomal Storage Disorders

Newborn screening is a state public health service in the United States that identifies babies who are at risk for developing conditions that can impact their health. It is a tool that tells us there is an increased chance that a child may have a condition. Illinois currently screens for more than 60 conditions, including the following lysosomal storage disorders: Acid Sphingomyelinase Deficiency (ASMD), Fabry, Gaucher, Krabbe, Mucopolysaccharidoses type I and type II (MPS I and MPS II), and Pompe.

A positive newborn screen for a lysosomal storge disorder does not, on its own, mean a diagnosis. When a newborn screen is positive for a lysosomal storage disorder, we will need to do more tests to confirm a diagnosis. There are many reasons why a baby may have a positive result on the newborn screen and a diagnosis is only one of those reasons.

• Positive Newborn Screen for Acid Sphingomyelinase Deficiency (ASMD) - English
• Positive Newborn Screen for Acid Sphingomyelinase Deficiency (ASMD) - Spanish
• Positive Newborn Screen for Fabry Disease - English
• Positive Newborn Screen for Fabry Disease - Spanish
• Positive Newborn Screen for Gaucher Disease - English
• Positive Newborn Screen for Gaucher Disease - Spanish
• Positive Newborn Screen for Mucopolysaccharidosis Type 1 (MPS I) - English
• Positive Newborn Screen for Mucopolysaccharidosis Type 1 (MPS I) - Spanish
• Positive Newborn Screen for Mucopolysaccharidosis Type 2 (MPS II) - English
• Positive Newborn Screen for Mucopolysaccharidosis Type 2 (MPS II) - Spanish
• Positive Newborn Screen for Pompe Disease - English
• Positive Newborn Screen for Pompe Disease - Spanish

Some of the lysosomal storage disorders have treatment available which can prevent or slow progression of the disease. One common type of treatment is called enzyme replacement therapy (ERT). ERT is a treatment that works like the lysosomal enzymes our body makes naturally. It helps to break down the buildup of material in the lysosomes. It is delivered into the patient’s vein (intravenously) as an infusion by a specially trained nurse. Lurie Children’s has two infusion centers where patients with lysosomal storage disorders can receive ERT:

Ann & Robert H. Lurie Children’s Hospital of Chicago (Main Hospital)

Lurie Children’s Hospital Outpatient Center in Schaumburg

• Lurie Children's Ambulatory Infusion Center FAQ - English
• Lurie Children's Ambulatory Infusion Center FAQ - Spanish

The First Lysosomal Storage Disorder Clinic Visit

Visits to the Lysosomal Storage Disorder Clinic are comprehensive and will take longer than a typical visit to your pediatrician or primary care provider. At the appointment, you will meet our LSD Team, which includes a genetic counselor, physician assistant, and/or a geneticist (doctor), all who have expertise in LSDs. We will review the medical and family histories, sometimes including prenatal (before birth), birth and developmental. The visit will also include a physical exam. Our team will explain our recommendations for ongoing management (for example, laboratory testing, imaging, etc.) and/or treatment. Much of this testing can be done at Lurie Children’s, regardless of age. We will also provide referrals to other specialists as needed.

Follow-up Visits

Lysosomal storage disorders are chronic, progressive genetic conditions that affect multiple organ systems. Individuals with an LSD require routine monitoring of these organ systems. Awareness of observable, measurable signs and reported symptoms (clinical manifestations) allows appropriate disease monitoring to manage, slow down, and sometimes prevent certain manifestations of the condition. We recommend all patients with an LSD be seen regularly in our clinic to monitor the progression of the disease.

We continue to learn more about lysosomal storage disorders. Regular visits with our LSD Team can help ensure patients are receiving medical management that aligns with the most up-to-date research, recommendations, and care guidelines.

For more information, please call 312.227.6120 and ask to speak to a genetic counselor.