Galactosamine-6-Sulfatase Deficiency treatment in León

Galactosamine-6-sulfatase deficiency is a rare inherited disorder, known as Morquio syndrome type A, in which the lack of an enzyme prevents the processing of certain substances that build up in the body's tissues.

What it involves: This buildup affects mainly the development of the bones and joints, and can have repercussions on growth, mobility and other organs.

Origin: It has a genetic cause and is passed from parents to children, so its signs are usually noticed during childhood.

Which specialist treats it? The pediatrician performs the initial assessment and relies on geneticists and other specialists for developmental follow-up. If changes in a child's bone growth are observed, it is advisable to raise them with a professional for evaluation.