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Lysosomal storage diseases

Fabry disease

An inherited disease in which a fat-like substance builds up in the cells. It often begins in childhood with pain in the hands and feet. Over time, the kidneys, heart and brain may be affected.

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

Orphanet has a guideline for emergency doctors for this disease (language: French, Italian). See on Orphanet

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 called alpha-galactosidase A does not work well enough in the body. Because of this, a fatty substance slowly builds up in cells. Over time, this build-up damages many organs. The kidneys, heart and brain can be affected.

Which symptoms can occur?

The classic type begins in childhood. Later-onset types are probably more common. These often affect only the heart, the kidneys or the blood vessels of the brain.

  • Burning pain in the hands and feet (common in the classic type)
  • Reduced sweating and intolerance of heat
  • Small dark spots on the skin
  • Clouding of the clear front layer of the eye
  • Digestive problems such as abdominal pain
  • Ringing in the ears and hearing loss
  • Over time, kidney failure, heart problems and stroke
  • In women, often milder and later; but serious problems can also occur

How is it diagnosed?

In men, the diagnosis is made when the enzyme level in the blood is very low. A gene test is also done. In women, the enzyme test can be misleading. That is why a genetic test is needed in women.

Treatment and care

There are several treatments specific to the disease; one is enzyme replacement therapy. The others are treatments that help the enzyme work or reduce the substance that builds up. Support is given for pain, kidney and heart problems. If needed, dialysis or a transplant is done. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through the X chromosome. Men are often more severely affected; women can also have symptoms. Genetic counselling is recommended for family members.

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

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe) · Birth prevalence: 1-9 per 1 000 000 (Worldwide)
How is it inherited?
X-linked dominant · X-linked recessive
When does it usually start?
Childhood, Adolescence, Adulthood
Gene(s) involved
GLA

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 Fabry

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 20 active interventional studies for this disease. 12 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:324 · ICD-11 5C56.01

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.