Lysosomal storage diseases
An inherited disease that affects the nervous system. The protective sheath around the nerves, called myelin, is damaged. It usually begins in infancy.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Lysosomal storage diseases” group.
An enzyme that breaks down certain fats in the body is missing. These fats damage nerve cells. The sheath around the nerves, called myelin, breaks down. The nerves can no longer carry signals.
The most common form begins before the age of one. There are also forms that begin later, in childhood or adulthood. Symptoms vary from person to person.
The doctor looks at the symptoms and the examination. The enzyme level and a substance called psychosine are measured in the blood. The diagnosis is confirmed with a genetic test that looks at the GALC gene. In some countries, it is also looked for in newborn screening.
A stem cell (bone marrow) transplant done before symptoms begin can change the course of the disease in some babies. This is why early diagnosis is important. Nutritional support, physiotherapy and seizure treatment are part of care. The team also regularly checks for eye, breathing and bone problems. Research into new treatments is ongoing. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. If the change in the family is known, testing can be done during pregnancy. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Krabbe disease · GeneReviews: Krabbe Disease · Orphanet: Krabbe disease (ORPHA:487)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
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.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
ItalyResearch and clinical trials
In Italy, six patients with Krabbe disease that began late in childhood received a stem cell transplant.
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.
Questions you can ask your doctor
ClinicalTrials.gov lists 3 active interventional studies for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Not yet recruitingNCT07740512
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)Active, not recruitingNCT02171104
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingNCT05739643
See all studies on ClinicalTrials.gov · Joining clinical trials
InternationalResearch and clinical trials
Records of 19 sibling pairs with Hunter syndrome were compared.
USANew treatments and approvals
The FDA has approved rebisufligene etisparvovec for children with Sanfilippo syndrome type A (MPS IIIA).
ChinaResearch and clinical trials
In China, 6 children with infantile-onset Pompe disease were given a single dose of gene therapy.
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:487 · ICD-11 8A44.4
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.