Scheie Syndrome

Scheie syndrome corresponds to the mildest form within mucopolysaccharidosis type I, a genetic metabolic disease in which certain molecules accumulate because they are not broken down correctly.

How it presents: It is usually identified later than other forms and may involve joint stiffness, particularities in the cornea and involvement of some organs, usually preserving intellectual development.

Common causes: It arises from an inherited disorder that partially decreases the activity of a specific enzyme.

Who to see: The pediatrician follows the child and, when there are findings suggesting an inherited metabolic disorder, requests the opinion of medical genetics. If joint or visual signs appear that are not easily explained, it is worth having them reviewed by a professional who can study their cause.