Glucosylceramidase Deficiency
Reviewed by the medical team of El Doctor Editorial policy
Glucosylceramidase deficiency, also known as Gaucher disease, is an inherited disorder in which the body does not properly process certain fats due to the lack of an enzyme, which causes their accumulation in organs and bones.
Common symptoms: It may present with enlargement of the spleen or liver, fatigue, bone abnormalities, and, in some forms, pain in bones and joints.
When to see a doctor? An evaluation is advisable when persistent bone discomfort appears or when findings such as enlargement of abdominal organs are present.
Which specialist treats it? The pediatrician usually detects it at early ages, and the orthopedist manages the effects on bones and joints, within multidisciplinary follow-up. In the presence of symptoms that suggest this type of disorder, it is prudent to seek a professional's opinion.
Data on 18 doctors who treat glucosylceramidase deficiency
Which specialist treats glucosylceramidase deficiency?
Glucosylceramidase deficiency is a genetic disorder related to abnormal fat buildup, which can affect bones and other organs. An orthopedist evaluates the associated bone abnormalities, and a pediatrician monitors the condition in children. If your child has bone pain or growth delay, see one of these specialists.
Treatment by city
Doctors specialized in glucosylceramidase 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. 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
Dr. Nadia Soler Quiñones
Frequently asked questions
What is glucosylceramidase deficiency?
Glucosylceramidase deficiency, also known as Gaucher disease, is an inherited disorder in which the body does not properly process certain fats due to the lack of an enzyme, which causes their accumulation in organs and bones.
Which doctor treats glucosylceramidase deficiency?
Glucosylceramidase deficiency is a genetic disorder related to abnormal fat buildup, which can affect bones and other organs. An orthopedist evaluates the associated bone abnormalities, and a pediatrician monitors the condition in children. If your child has bone pain or growth delay, see one of these specialists.