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Lysosomal storage diseases

Gaucher disease

An inherited lysosomal storage disease. The liver and spleen become enlarged; anemia, easy bruising and bone problems may occur. In some types, the brain is also affected.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Lysosomal storage diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

An enzyme does not work well enough in the body. This enzyme breaks down a fatty substance. The substance builds up in cells and damages organs. There are several types of the disease; the most common is type 1.

Which symptoms can occur?

Symptoms vary greatly depending on the type. Type 1 does not affect the brain; types 2 and 3 also affect the brain.

  • Large liver and spleen (common in type 1)
  • Anemia and easy bruising
  • Bone pain, fractures and joint problems
  • Problems with eye movements, and seizures (in types 2 and 3)
  • Severe, life-threatening problems that begin in infancy (in type 2)

How is it diagnosed?

The diagnosis is made by measuring the enzyme level in the white blood cells. A genetic test confirms the diagnosis.

Treatment and care

There are two kinds of treatment for type 1 and type 3. One is enzyme replacement therapy. The other is a treatment that reduces the production of the substance that builds up. These treatments are not effective in type 2. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The child receives one changed gene from the mother and one from the father. The mother and father are often healthy carriers. Genetic counselling is recommended for brothers and sisters and for future pregnancies.

Source: MedlinePlus Genetics — Gaucher disease · Orphanet — Gaucher disease

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe) · Birth prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Autosomal recessive
When does it usually start?
Any age
Gene(s) involved
GBA1, PSAP

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Gaucher

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 13 active interventional studies for this disease. 5 are recruiting now; 2 have sites in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lysosomal storage diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:355

No separate ICD-11 code; WHO classifies this disease under: 5C56.0Y (Other specified sphingolipidosis)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.