00:00 / 00:00
Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
0 / 13 complete
0 / 2 complete
Turning the Camera on Myself: Gaucher Disease
osteonecrosis p. 468
osteonecrosis in p. 468
Gaucher disease p. 86
Gaucher disease is an inherited condition characterized by insufficient levels of the enzyme glucocerebrosidase, also called beta-glucosidase.
It’s named for the French physician, Philippe Gaucher, who first described the condition.
Glucocerebroside is a glycolipid, which is a molecule containing both sugar and fat, that's included in the membrane of many different cells.
Glucocerebroside is formed through a set of reactions in the cell that require enzymes.
Once the glucocerebroside is made it becomes a part of various cells and when these cells become old or damaged, they are often engulfed, or eaten, by immune cells called macrophages.
Macrophages contain lysosomes, which are organelles that act as the cells’ digestive center. Inside lysosomes, large, potentially harmful substances are broken down, to be either discharged or reused by the body.
One example is glucocerebroside which is broken down by the enzyme glucocerebrosidase, or GBA, which is a product of the GBA gene.
In Gaucher disease, the GBA gene is faulty, meaning it has a mutation that leads to a reduction in the level or activity of glucocerebrosidase.
Hence, glucocerebroside can’t be broken down and it accumulates inside the lysosomes of macrophages.
So under a microscope, macrophages have a characteristic lipid-laden, or “fatty” appearance, similar to “crumpled tissue-paper.”
These transformed macrophages are called Gaucher cells, and they accumulate in multiple organs and tissues, including the bone marrow, liver, and spleen.
While the reason is unclear, Gaucher cells and other nearby macrophages secrete damaging lysosomal enzymes and inflammatory signals into the surrounding area.
This causes an immune response and production of scar tissue, resulting in many characteristic signs and symptoms.
GBA gene mutations are inherited in an autosomal recessive manner.
There are a few subtypes of Gaucher disease. In type 1, some individuals are asymptomatic, but when there are signs and symptoms they can be due to bone marrow fibrosis, which causes reduced production of red blood cells, resulting in anemia and associated fatigue.
Gaucher disease (GD) is a rare, inherited disorder that affects the body's ability to break down glucocerebroside molecules, because there is a lack of an enzyme called glucocerebrosidase that normally breaks down this molecule. This results in the accumulation of glucocerebrosidase in the lysosomes of macrophages, and other tissues, in different parts of the body.
There are three major types of Gaucher disease, depending on which tissues are most affected. In type 1 Gaucher disease, bone marrow cells are the most affected, which can lead to bone marrow fibrosis and anemia, and hepatosplenomegaly. In type 2 Gaucher disease, neurons in the brain are damaged and symptoms progress rapidly, resulting in death within the first few years. Finally, type 3 Gaucher disease is like type 2, but the symptoms develop at a slower rate.
Latest on COVID-19
Nurse Practitioner (NP)
Physician Assistant (PA)
Create custom content
Raise the Line Podcast
Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
Cookies are used by this site.
Terms and Conditions
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.