Foundation of Caring Lysosomal Storage Disorder Program

clinical care that attracts patients worldwide

The Foundation of Caring Lysosomal Storage Disorder Program at CHOC Children’s is a unique multidisciplinary and comprehensive program for the diagnosis and treatment of children and teens with lysosomal storage disorders (LSD).

CHOC is one of only a few centers in the United States with a specialized program for lysosomal storage diseases. For some disorders, we are the only center on the West Coast to provide specialized treatment. Early diagnosis is critical to starting life-saving treatment.

The CHOC Difference

Care for lysosomal storage disorders is often fragmented, since they cause many different kinds of symptoms. We provide individualized and multidisciplinary inpatient and outpatient care for these conditions.

We offer our patients and families:

  • A comprehensive team of specialists, including board-certified biochemical physicians, neurologists, endocrinologists, orthopaedic surgeons, cardiologists and genetic counselors, to collectively manage lysosomal storage disorders and its effects on different areas of the body.
  • Board-certified metabolic doctors who participate in the latest clinical trials to bring life-saving treatments to kids, as well as cutting-edge research leading to early detection and improved management of lysosomal storage diseases.
  • Specialized program for the treatment of Batten disease.
  • A clinical trial center for Niemann Pick C disease.
  • A single care setting for all diagnostic testing and treatment planning, for the convenience of families. Our specialized metabolics laboratory can provides rapid and accurate test results which can be especially important with a progressing metabolic disorder.
  • A specialized clinic coordinator to educate patients and families about treatment, follow-up on treatment plans and appointments, as well as meet with your family on treatment days to answer questions.
  • The only comprehensive and multidisciplinary program for mucopolysaccharidosis (MPS) in the Western United States. We offer a unique expertise in MPS not seen at most hospitals.
  • Close coordination with your child’s referring pediatrician and local subspecialties.
  • The opportunities for families to participate in clinical trials and scientific research. The CHOC metabolics team is actively involved in research to further our understanding of lysosomal storage disorders and discover the latest treatments.

Frequently Asked Questions about Lysosomal Storage Diseases

What is lysosomal storage disease?

Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. Symptoms may include developmental delay, intellectual disability, enlargement of the liver and spleen, joint restrictions, coarse facial features and heart problems.

Below are some of the lysosomal storage diseases that we currently treat.

Mucopolysaccharide Storage Diseases (Hurler Disease and variants, Hunter, Sanfilippo Types A,B,C,D, Morquio Types A and B, Maroteaux-Lamy and Sly diseases)
Niemann-Pick C Disease
Niemann-Pick A & B Diseases
Glycogen Storage Disease II (Pompe Disease)
Neuronal Ceroid Lipofuscinoses (including Type II NCL)
Gaucher Disease Types I, II, and III
Fabry Disease
GM1-Gangliosidosis
GM2-Gangliosidoses (Tay Sachs and Sandhoff Diseases)
Cystinosis
Metachromatic Leukodystrophy
Mucolipidosis Types I, II, and III
Sialidosis

What are the signs and symptoms of lysosomal storage disease?

Symptoms may include developmental delay, intellectual disability, enlargement of the liver and spleen, joint restrictions, coarse facial features and heart problems.

If lysosomal storage disease is not diagnosed and treated, it can cause permanent damage to organs and tissues throughout the body.

How is a lysosomal storage disease diagnosed?

If the lysosomal storage disease is not discovered with prenatal or newborn testing methods, CHOC specialists use the results of genetic testing, as well as a thorough physical exam and patient history for diagnosis.

How is a lysosomal storage disease treated?

There are treatments available for some lysosomal storage disorders that greatly improve the quality of life for those affected. However, there is no cure for lysosomal storage disorders and the treatment depends on the specific disease. Early diagnosis is critical to starting life-saving treatment.

CHOC Clinical Trials Attract Patients from Around the World

Metabolic clinical trial

Every year, patients travel to CHOC Children’s to access care they can’t find anywhere else, including cutting-edge clinical trials. Their willingness to crisscross the globe to participating these studies has placed the hospital on the map as a leading destination for innovative care.

One of these families is the McGregor family of Blackfalds, Alberta, Canada who found CHOC while searching for treatment alternatives for their 11-year-old daughter, Katharina (Katha). Katha has Niemann-Pick disease Type C (NP-C), a rare genetic disease that causes cholesterol to accumulate in the brain, lungs, liver and spleen.

Physician Tenacity, Experimental Treatment Help Baby with Rare Disease

A toddler with a devastating rare condition has a chance for health, thanks to an experimental treatment and the tenacity of Dr. Raymond Wang, a CHOC Children’s physician.

toddler with a devastating rare condition