Mucopolysaccharidosis Type II

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a hereditary metabolic disease in which the body does not adequately break down certain complex substances, which accumulate in different organs and tissues.

Common manifestations: particular facial features, altered growth, joint stiffness, enlargement of some organs and, in several cases, hearing and developmental impairment are usually noticed. The manifestations appear progressively.

Common causes: it originates from a genetic variant that reduces the activity of an enzyme needed to process those substances; it has a sex-linked hereditary pattern.

Which specialist treats it? Its study corresponds to the pediatrician along with the geneticist and, depending on the affected organs, other specialists. When faced with a family history or signs of atypical development in a child, the prudent thing is to seek a specialized evaluation to guide follow-up.