Lysosomal storage diseases
An inherited disease that affects the nerve cells in the brain and spinal cord. A fatty substance builds up in the cells. It most often begins in infancy.
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). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Lysosomal storage diseases” group.
An enzyme is missing in the cells. This enzyme breaks down a fatty substance called GM2. When the substance is not broken down, it builds up in the nerve cells. Over time, the nerve cells in the brain and spinal cord are damaged.
Babies usually develop normally until 3–6 months. Then development slows down. There are also forms that begin later and are milder.
The doctor looks at the symptoms and the eye examination. The activity of the enzyme hexosaminidase A is measured in the blood. The diagnosis is confirmed with a genetic test that looks at the HEXA gene.
At present, there is no approved treatment specific to the disease. Care aims to ease the symptoms. Nutrition and fluid support, seizure treatment and protecting the airway are important. In the later forms, physiotherapy and speech therapy help. New methods such as gene therapy are being researched. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are 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. Carrier testing and testing during pregnancy are possible. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Tay-Sachs disease · GeneReviews: HEXA Disorders · NORD: Tay-Sachs Disease
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.
GlobalResearch and clinical trials
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
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. 3 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)RecruitingSite in TürkiyeNCT07054515
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT02254863
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT07399704
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingNCT04798235
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:845
No separate ICD-11 code; WHO classifies this disease under: 5C56.00
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.