Aspartoacylase Deficiency
Reviewed by the medical team of El Doctor Editorial policy
Aspartoacylase deficiency is a rare genetic disorder in which this enzyme is missing or does not work properly, which causes the buildup of a substance that damages the white matter of the brain. It is classified among the neurological diseases of hereditary origin.
How it presents: It is usually detected in the first months of life with developmental delay, low muscle tone, difficulty holding up the head, and an increase in head circumference.
Why it happens: It is inherited from both parents who carry the genetic alteration; it is not contagious and does not depend on habits.
Which specialist handles it? The neurologist and the pediatrician are the ones who assess and follow up these cases, frequently with support from genetics. If a baby shows striking developmental delays, an early professional evaluation helps guide the appropriate support.
Data on 9 doctors who treat aspartoacylase deficiency
Which specialist treats aspartoacylase deficiency?
Aspartoacylase deficiency (Canavan disease) should be evaluated by a Neurologist, with a Pediatrician coordinating overall follow-up in children. You can book an appointment with the specialist your case requires.
Treatment by city
Doctors specialized in aspartoacylase deficiency
Dr. Lorely Vianey Bres Ramírez
Dr. Kim Danae Díaz Juárez
Dr. Carlos Andrés Aceves Barrios
Dr. Miguel Ángel Martínez Benaiges
Dr. Guillermo Fojaco Villanueva
Dr. Ivette Victorino
Dr. Daniel Aguirre Fernández
Dr. Sandra Herrera Rodriguez
Dr. Valeria Gómez Galván
Dr. Andrea Piñeyro V.
Dr. Elisa Barrios Santos
Dr. Elideth Paniagua Anduiza
Dr. Christian Jonathan Villarreal Vidal
Dr. Gerardo Arturo Quiñones Pesqueira
Dr. Nadia Soler Quiñones
Dr. Leslie Ramirez Angoa
Dr. Ximena Cortés Núñez
Dr. Paulina Arellano Álvarez
Dr. Pedro Gutiérrez Navarro
Dr. Melisa Cañete Alavez
Frequently asked questions
What is aspartoacylase deficiency?
Aspartoacylase deficiency is a rare genetic disorder in which this enzyme is missing or does not work properly, which causes the buildup of a substance that damages the white matter of the brain. It is classified among the neurological diseases of hereditary origin.
Which doctor treats aspartoacylase deficiency?
Aspartoacylase deficiency (Canavan disease) should be evaluated by a Neurologist, with a Pediatrician coordinating overall follow-up in children. You can book an appointment with the specialist your case requires.