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Lysosomal Storage Diseases

Lysosomal storage diseases, or LSDs, are rare inherited conditions caused by enzyme deficiencies that prevent cells from breaking down certain substances, such as fatty compounds, sugars, or cellular waste. When these materials build up inside cells, over time they can damage organs, bones, and the nervous system.

At Mount Sinai Medical Center, our specialized Medical Genetics program offers expert diagnosis, genetic counseling, and treatment for lysosomal storage diseases, including Fabry disease and Gaucher disease. As part of this program, patients may receive regular enzyme replacement therapy (ERT) infusions and coordinated long-term care to help manage symptoms and reduce disease progression.

Fabry Disease
Gaucher Disease

Fabry Disease

Fabry disease is a rare, inherited condition caused by a genetic change that leads to a shortage of a specific enzyme called alpha-galactosidase A. Without enough of this enzyme, certain fatty substances (known as globotriaosylceramide, or GL-3) build up in blood vessels and tissues throughout the body. Over time, this buildup can lead to serious complications in the kidneys, heart, nervous system, and other organs.

Fabry disease can affect both men and women, though symptoms and severity can differ from person to person. Classic Fabry disease often begins during childhood or adolescence, but later-onset forms may not appear until adulthood.

In adults, advanced Fabry disease may cause:

  • Progressive kidney disease
  • Cardiac complications (arrhythmias, hypertrophy, heart failure)
  • Stroke or transient ischemic attacks (TIAs)
  • Hearing loss, tinnitus, fatigue
  • Chronic pain, especially in the hands and feet

Early signs and symptoms can include frequent diarrhea and other gastrointestinal problems, numbness in the hands and feet (neuropathy) and stopping to sweat regularly.

Because symptoms can be hard to detect, progress slowly, or appear differently in men and women, Fabry disease is often underdiagnosed in adults. The condition is also more common in certain populations, including individuals of Ashkenazi Jewish descent.

Treatment For Fabry Disease

Mount Sinai Medical Center is one of the few programs in the region offering both diagnosis and active treatment for Fabry Disease in adults.

We provide enzyme replacement therapy (ERT), the preferred therapy to restore the missing or deficient enzymes involved in Fabry disease. When administered early, ERT can:

  • Alleviate core symptoms of Fabry disease such as fatigue, pain, and organ enlargement, when initiated early in the disease course.
  • Improve clinical metrics such as blood counts and kidney function.
  • Slow the progression of organ damage, especially in the heart and kidneys.
  • Support a better quality of life and may help prevent the long-term complications commonly seen in untreated patients.

Our team provides personalized treatment plans, regular follow-up care, and coordination with specialists across Mount Sinai to ensure patients receive comprehensive, ongoing support.

Gaucher Disease

Gaucher disease is a rare genetic condition that leads to a shortage of the enzyme glucocerebrosidase. This enzyme plays a critical role in breaking down certain fatty substances in the body. When the enzyme is missing or doesn’t work properly, these substances accumulate, particularly in the liver, spleen, and bones, causing damage to organs and tissues over time.

The most common form, Type 1 Gaucher disease, can appear at any age. However, the disease is often not diagnosed until adulthood due to its wide range of symptoms and irregular progression.

In adults, symptoms may include:

  • Ongoing fatigue
  • Enlarged spleen and/or liver
  • Easy bruising or prolonged bleeding
  • Bone pain, fractures, or joint damage
  • Anemia and low platelet counts

Gaucher disease is more common in certain populations, particularly individuals of Ashkenazi Jewish descent. However, it can affect people of all backgrounds and is frequently mistaken for more common conditions, such as anemia, arthritis, or blood disorders, especially in adults whose symptoms progress slowly.

Our Physicians

Irman Forghani

Irman Forghani, MD, FACMG

Director, Rad Center for Precision Medicine

Director of Genetics at Mount Sinai Medical Center

  • Cancer
  • Medical Genetics
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