Lysosomal storage diseases
An inherited lysosomal storage disease in which an enzyme deficiency causes substances to build up in many organs. The severe type (Hurler) begins in infancy; the mild type (Scheie) begins later.
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.
The body lacks an enzyme that breaks down sugar molecules called GAGs (glycosaminoglycans). GAGs build up in cells and affect many organs. The severe type (Hurler) begins in the first year and markedly shortens life. In the mild type (Scheie), symptoms begin later; people often reach adulthood.
Symptoms increase over time. Which symptoms appear depends on the type.
Because the first symptoms are not obvious, the diagnosis may be delayed. The level of GAGs in the urine is found to be high. The diagnosis is made by showing the enzyme deficiency in the blood or in cells.
Care is based on supportive care provided jointly by different specialists. Stem cell transplantation helps some patients. Enzyme replacement therapy can improve breathing and joint movement. Early treatment slows progression but cannot repair damage in the brain. The doctor who follows the disease decides which treatment is suitable.
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 — Mucopolysaccharidosis type I · Orphanet — Mucopolysaccharidosis type 1
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.
USAResearch and clinical trials
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
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 7 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT05682144
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT04532047
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT06519552
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingNCT03488394
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Active, not recruitingNCT03153319
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:579 · ICD-11 5C56.30
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.