Cystathionine Beta-Synthase Deficiency
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.
Specialties that treat cystathionine beta-synthase deficiency
Treatment by city
Doctors specialized in cystathionine beta-synthase deficiency
Dr. Edgar Bustos Córdova
Dr. Alberto Fregoso Ojeda
Dr. Rodolfo Rivas Ruiz
Dr. Sergio Miguel Gomez Dorantes
Dr. Mercado Filomena Vizcaino
Dr. Olga Eugenia Martínez Garza
Dr. Jose Luis Balanzar Serna
Dr. Alfonso Corona Tellez
Dr. Rodriguez Francisco Herrera
Dr. Román Pineda Abarca
Dr. Escandon Hector Calles
Dr. Roberto Moreno Paez
Dr. Francisco Alvarado Alemán
Dr. Jesús Isidro Pinzón Sánchez
Dr. Elizabeth Solano Pareja
Dr. Victor Tapia Alfaro
Dr. Julio Fraire Calleros
Dr. Gabriela Juárez Domínguez
Dr. Maria Eugenia Chang Gonzalez
Dr. Edgar Sanchez-Uribe
Frequently asked questions
What is cystathionine beta-synthase deficiency?
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.
Which doctor treats cystathionine beta-synthase deficiency?
Cystathionine Beta-Synthase Deficiency is usually treated by specialists in pediatrician.