Cystathionine Beta-Synthase Deficiency
Reviewed by the medical team of El Doctor Editorial policy
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.
Data on 29 doctors who treat cystathionine beta-synthase deficiency
Which specialist treats cystathionine beta-synthase deficiency?
Cystathionine beta synthase deficiency is evaluated and monitored by a pediatrician, who coordinates management of this metabolic disorder. You can find pediatricians available for this.
Treatment by city
Doctors specialized in cystathionine beta-synthase deficiency
Dr. Úrsula Garcia Soto
Dr. César Nájera
Dr. Hugo Arturo González Martínez
Dr. Lorely Vianey Bres Ramírez
Dr. Yolanda Yamilé López López
Dr. Diego Alejandro Oliva Vallejo
Dr. Kim Danae Díaz Juárez
Dr. Carlos Andrés Aceves Barrios
Dr. Arturo Ariph Ibarra Sánchez
Dr. Beatriz Ortiz Figueroa
Dr. Rogelio García Cruz
Dr. Christian Jonathan Ventoledo López
Dr. Miguel Ángel Martínez Benaiges
Dr. Guillermo Fojaco Villanueva
Dr. Ivette Victorino
Dr. Sandra Herrera Rodriguez
Dr. Valeria Gómez Galván
Dr. Andrea Piñeyro V.
Dr. Elisa Barrios Santos
Dr. Valeria Becerril Ledezma
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 evaluated and monitored by a pediatrician, who coordinates management of this metabolic disorder. You can find pediatricians available for this.