Glucocerebrosidase Deficiency
Reviewed by the medical team of El Doctor Editorial policy
Glucocerebrosidase deficiency, also known as Gaucher disease, is an inherited disorder in which an enzyme responsible for breaking down a certain fatty substance is missing or malfunctions, so that the substance then accumulates in organs and tissues.
How it presents:
- Enlargement of the spleen or liver.
- Fatigue and a tendency to bruising or bleeding.
- Bone discomfort or easy fractures.
When to seek care? In the presence of signs such as a distended abdomen, unexplained fatigue, or bone pain during childhood, an evaluation is advisable.
Which specialist treats it? The pediatrician usually coordinates follow-up at early ages, while the orthopedist evaluates the effects on the bones. Talking with them about the observed symptoms helps clarify the origin of each case.
Data on 21 doctors who treat glucocerebrosidase deficiency
Which specialist treats glucocerebrosidase deficiency?
Glucocerebrosidase deficiency is a genetic disorder that causes abnormal fat buildup in various organs, better known as Gaucher disease. A pediatrician is the specialist who evaluates and monitors this condition in children. If your child has abdominal swelling, fatigue, or frequent bruising, see this specialist.
Treatment by city
Doctors specialized in glucocerebrosidase deficiency
Dr. César Nájera
Dr. Hugo Arturo González Martínez
Dr. Lorely Vianey Bres Ramírez
Dr. Diego Alejandro Oliva Vallejo
Dr. Kim Danae Díaz Juárez
Dr. Carlos Andrés Aceves Barrios
Dr. Rogelio García Cruz
Dr. Christian Jonathan Ventoledo López
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. Luis Daniel Ramos Montes
Dr. Christian Jonathan Villarreal Vidal
Dr. Mario Becerra Fernández
Frequently asked questions
What is glucocerebrosidase deficiency?
Glucocerebrosidase deficiency, also known as Gaucher disease, is an inherited disorder in which an enzyme responsible for breaking down a certain fatty substance is missing or malfunctions, so that the substance then accumulates in organs and tissues.
Which doctor treats glucocerebrosidase deficiency?
Glucocerebrosidase deficiency is a genetic disorder that causes abnormal fat buildup in various organs, better known as Gaucher disease. A pediatrician is the specialist who evaluates and monitors this condition in children. If your child has abdominal swelling, fatigue, or frequent bruising, see this specialist.