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UCI's Lysosomal Storage Disorder Program
The UCI Lysosomal Storage Disorder Program is a team of specialized healthcare providers including doctors, nurses, and genetic counselors with experience diagnosing and treating these rare disorders.
What is a Lysosomal Storage Disorder?
There are more than 40 known lysosomal storage disorders. They are caused by a change in important genetic information in a person's DNA, or the instructions for the body.
This change in the DNA causes the body's to not be able to make a specific kind of protein, called an "enzyme". There are many types of enzymes. Each enzyme is responsible for breaking down, or digesting, a certain compound in the body. There are a group of enzymes that normally get rid of unwanted substances in the body. A lack of these enzymes leads to a lysosomal storage disorder.
When an enzyme is missing, the compound it should break down builds up in the body. This is because the body does not have a way to dispose of the compound without the enzyme. The body stores the compound in the lysosomes, small compartments in the body's cells. Lysosomes act as the "recycling center" of each cell, breaking down unwanted material into simple products for the cell to use to build new material. This is where the term "lysosomal storage disease" comes from.
As the lysosomes get more and more full, the cell can become damaged and unable to do its job. This progressive storage of materials in the lysosomes causes damage to cells and tissues, which leads to the symptoms of the disease. This abnormal storage causes the cells to not work as well as they should and leads to damage of the body's cells. This can cause serious health problems. This is why it is important to have a healthcare team familiar with the condition.
While all lysosomal storage disorders have different symptoms, all of the disorders are caused by the storage of a compound in the lysosome that the body is unable to break down.
Many of these disorders are rare, but some occur more often in people of certain ethnic groups. Because these disorders can be passed down through families, or inherited, in different patterns, a person's risk of passing this condition on to his or her children depends on the disease and the individual's family background. Genetics professionals can help answer questions about this area.
Multidisciplinary Team
Virginia Kimonis, MD
Geneticist
UC Irvine profile
CHOC profile
John Jay Gargus, MD, PHD
Geneticist
UC Irvine profile
Marie Wencel
Clinical Research Coordinator
Annabel Wang, MD
Neurology / Neuromusclar disorders
UC Irvine Health profile
Tasheen Mozaffar, MBBS
Neurology / Neuromusclar disorders
UC Irvine Health profile
Patricia Tully, Nurse Practicioner
Neurology / Neuromuscular disorders
Pulmonologists
Cardiologists
Comprehensive Services Offered
Due to the complexity of lysosomal storage disorders, it is important for patients and their families to be followed by a team of healthcare providers and medical experts who are familiar with the conditions. Our specialized team of experts offers comprehensive services including:
- Consultation and evaluation: Lysosomal storage disorders are diagnosed based on clinical features of each disorder. Sometimes there is a family history of the disorder or similar symptoms that may aid in diagnosis. Patients who are referred will have a full medical and family history obtained, full examination, and testing and follow up as needed.
- Diagnostic testing: There are many specialized tests for these disorders. We will order tests to confirm and/or rule out appropriate disorders.
- Interaction with and education of referring physicians for life-long care: Lysosomal storage disorders can affect many different organs, have a variety of symptoms, and can change overtime. Having an expert available to work with and educate other physicians involved in your care can lead to the highest quality of care.
- Treatment and management: People with one of these disorders can be seen on a regular basis to monitor symptoms, evaluate for new symptoms, manage progression, and assist with treatment if it is available.
- Genetic Counseling: The genetic and hereditary implications of the different disorders are discussed with each patient and their families. They can explain the complicated genetics, as well as discuss the risks to other members of the family.
- Referral to Specialists: Since many parts of the body can be affected, it takes many doctors to manage your health. We can make appropriate referrals and make sure you are placed with the right specialties for your disorder.
- Patient education and support group meetings: Lysosomal storage disorers are rare and you may feel all alone. We offer meetings with you, your family members, and healthcare professionals so that everyone can have their questions answered and feel more comfortable with the condition.
- Research updates: Our team keeps up to date with the most current and on-going research.
Family Meetings
We understand that being considered for or being diagnosed with a lysosomal storage disorder can be scary and you may feel alone. We plan meetings with you, your immediate family, extended family members, and health care providers involved in your care to answer your questions, discuss what to expect, treatment strategies, and risks to other members in the family.
Wolman Disease / Lysosomal Acid Lipase Disease
We are involved with a study that is evaluating a therapy for a storage disorder described as LysosomalAcid Lipase (LAL) Deficiency.
This condition may present at any age, but an early onset (WolmanDisease) form has a particularly severe presentation and outcome. Lysosomal Acid Lipase (LAL) Deficiency is a rare genetic disease with significant morbidity and earlymortality. Specifically, LAL Deficiency is an autosomal recessive lysosomal storage disorder that resultsin marked decrease in the activity of the enzyme lysosomal acid lipase, which leads to lipid (cholesterylesters and triglycerides) accumulation in various tissues and cell types.
The early onset form of LAL Deficiency has a reported incidence of 2 births per million in a general population, although it could be as high as 238 per million in certain groups such as Persian Jewish population of Los Angeles. Most babies born with the early onset form of LAL Deficiency (Wolman Disease) appear healthy at birth and typically present before 3 months of age with persistent vomiting, diarrhea, abdominal distension,and failure to thrive. However, the disease is rapidly progressive and has nearly 100% mortality in the first year of life.
UC Irvine and Synageva BioPharma are conducting a clinical trial investigating an enzyme replacement therapy for early onset LALDeficiency. Please see the link to www.clinicaltrials.gov below:
Wolman Family Support Group:
Other Helpful Information
Appointments
Clinic Phone Numbers
- For individuals 18 years and older: UC Irvine 714-456-7002-Specialty-Genetics
- For individuals under 18 years of age: CHOC 714-532-7982
- For individuals attending clinic in Long Beach main line 562-933-2000 or clinic line 562-424-4815
Maps
Genetics Program
Dr. Kimonis' Website
Contact Information
University of California, Irvine Medical Center
Lysosomal Storage Disorder Program
101 The City Drive Ste 800
Orange, CA 92868
Phone: 714-456-5792
Fax 714-456-5330
Directions to the GCRC in Orange and Main Campus
Sponsored by an education grant from Genzyme Corporation
Attachments
- Pompe Family Meeting with Dr Barry Byrne - 2/7/12 (.RTF)
- Pompe Family Meeting hosted by United Pompe Foundation, Los Angeles - 6/30/12 (.PDF)
- Group photo from the family meeting with Dr. Slonim
