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.
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.
Specialties that treat glucocerebrosidase deficiency
Treatment by city
Doctors specialized in glucocerebrosidase deficiency
Dr. Edgar Bustos Córdova
Dr. Raul Aragon Lopez
Dr. Alberto Fregoso Ojeda
Dr. Rodolfo Rivas Ruiz
Dr. Omar Cortez
Dr. Sergio Miguel Gomez Dorantes
Dr. Juan Carlos Valle Landa
Dr. Santiago Valentin Guerrero
Dr. Mauricio Ordoñez Hinojos
Dr. Mario Alberto Ciénega Ramos
Dr. Mercado Filomena Vizcaino
Dr. Jesus Francisco Meza Santini
Dra. Olga Eugenia Martínez Garza
Dr. Jose Luis Balanzar Serna
Dr. Fernando Guevara Ayon
Dr. Alfonso Corona Tellez
Dr. Rodriguez Francisco Herrera
Dr. Marco Antonio Aviña González
Dr. Román Pineda Abarca
Dr. Sergio Enrique Gomez Gallegos
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 usually treated by specialists in orthopedist, pediatrician.