Beta-Galactosidase Deficiency

Beta-galactosidase deficiency is a hereditary disorder in which an enzyme responsible for breaking down certain substances in the body is missing or functions poorly, which causes their progressive accumulation.

Manifestations: Depending on the form and age of onset, it can be associated with growth problems, skeletal, neurological or digestive alterations, with very variable degrees of involvement among people.

Origin: It is a metabolic condition of genetic basis that affects the way the body processes certain compounds, so its study requires specialized analyses.

Which specialist evaluates it? The general practitioner can guide an initial evaluation, the internist evaluates adults and the gastroenterologist participates when there is digestive involvement. Faced with persistent symptoms without a clear explanation, a medical evaluation allows the origin to be studied with the detail that each case needs.