Cystathionine Beta-Synthase Deficiency treatment in Centro

Cystathionine beta-synthase deficiency is an inherited metabolic disorder, also called homocystinuria, in which the body does not properly process an amino acid present in proteins, causing it to build up.

What it involves: This buildup can affect different systems, with possible repercussions on the eyes, bones, blood vessels and development.

Origin: It has a genetic cause and is passed from parents to children; in many places it is screened for early through newborn screening.

Which specialist treats it? The pediatrician coordinates the assessment and usually relies on specialists in metabolism and genetics for follow-up. When there is an abnormal screening result or signs of atypical development, it is advisable to see a professional to clarify it.