Hurler Syndrome

It is a metabolic disease where, due to a deficiency of the alpha-L-iduronidase enzyme that should break down and recycle aging connective tissue in the body, giant sugar chains accumulate like garbage in the organs, disrupting them.

In babies who appear healthy at birth, the head structure grows over time, facial features become coarse (gargoylism), a hunchback develops in the spine, claw deformities appear in the hands, and the liver and spleen enlarge.

The accumulating sugar molecules settle in the transparent layer of the eye (cornea), causing it to become cloudy like frosted glass, leading to vision loss. At the same time, they fill brain cells, causing severe and progressive intellectual disability.

It is inherited in an autosomal recessive manner. Parents are healthy carriers. For the disease to appear, the baby must inherit the defective gene from both the mother and the father simultaneously.

When physical findings arouse suspicion, the high excretion of glycosaminoglycans (GAGs) in the urine is first checked. A definitive diagnosis is made by finding the enzyme level in the blood close to zero and via genetic DNA testing.

The missing enzyme is administered externally via an IV (Enzyme Replacement Therapy); this stops organ enlargement but does not prevent intellectual disability as it cannot cross into the brain. A Bone Marrow (Stem Cell) Transplant, performed at an early age before intellectual loss begins, is the most effective solution capable of radically stopping the progression of the disease.