Hurler syndrome, also known as Mucopolysaccharidosis Type I (MPS I-H), is a rare inherited genetic disorder in which the body lacks or has very low levels of an enzyme called alpha-L-iduronidase. This enzyme is needed to break down certain complex sugars known as glycosaminoglycans (GAGs). When these substances accumulate in the body, they can progressively damage multiple organs and tissues.
The condition is caused by mutations (changes) in the IDUA gene. It follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty gene from both parents to develop the disorder.
Symptoms usually appear during infancy or early childhood and may include coarse facial features, delayed growth, short stature, enlarged spleen and liver, joint stiffness, skeletal abnormalities, developmental delays, etc.
Although there is no cure, early diagnosis and treatment can improve outcomes. Management typically involves enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and supportive care to address complications affecting the heart, lungs, bones, vision, and hearing. Early intervention is crucial to slow disease progression and improve quality of life.
