Lysosomal storage diseases
An inherited disease of the nervous system. The protective sheath around the nerves breaks down. Walking, speaking and learning skills gradually decline.
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.
A change in the ARSA gene reduces the enzyme arylsulfatase A. This enzyme breaks down fats called sulfatides. Sulfatides build up in the cells that make the sheath around the nerves. This sheath is called myelin. Over time, myelin in the brain, spinal cord and nerves breaks down.
The disease has three forms. The most common form usually begins in the second year of life.
A brain MRI can show the loss of myelin. The enzyme is measured in the blood and sulfatides in the urine. A genetic test examines the ARSA and PSAP genes. In very young children, the first MRI may be normal.
For some children diagnosed before symptoms begin or very early, there is an approved gene therapy. A stem cell transplant may also be considered for some children at this stage. In other situations, supportive treatment that eases the symptoms is given. This is why early diagnosis is so important. 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. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Metachromatic leukodystrophy · NORD: Metachromatic Leukodystrophy
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.
EuropeResearch and clinical trials
Long-term results of atidarsagene autotemcel, a stem cell gene therapy for metachromatic leukodystrophy, have been published.
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 4 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)Active, not recruitingNCT02171104
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingNCT04283227
Non-drug study (device, procedure, care, etc.)Not yet recruitingNCT03725670
Non-drug study (device, procedure, care, etc.)Not yet recruitingNCT07046338
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:512 · ICD-11 5C56.02
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.