Gaucher disease: a comprehensive review
Abstract
Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone, and osteoporosis. There are three types of GD; types 2 and 3 have neurological involvement. With the advent of enzyme replacement therapy and substrate reduction therapy, the natural history of the disease has been has significantly changed, with a marked decrease in morbidity, especially for type 1 patients. This article reviews a broad spectrum of information regarding Gaucher disease, from the history of the disease to newer therapies still in the investigational stage.
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Mutations in the TSC1 gene have long been linked to tuberous sclerosis complex (TSC), characterized by pathognomonic skin findings, seizures, cognitive disability, and accumulation of a variety of tumors.
“For example, mutations in the TSC1 gene have for many years been linked to tuberous sclerosis complex (TSC), which is characterized by pathognomonic skin findings, seizures, cognitive disability, and the accumulation of a variety of tumors.138”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [138]
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- Authors
- Rosenbloom, B. E., & Weinreb, N. J.
- Affiliations
- Cedars-Sinai Medical Center (US)
- University of Miami (US)
- Venue
- Critical Reviews in Oncogenesis
- Publisher
- Begell House
- Published
- 2013
- Volume
- 18
- Issue
- 3
- Pages
- 163-175
- ISSN
- 0893-9675 (ISSN-L)
- 2162-6448
- OpenAlex
- W2089168655
- Cited by
- 181
- References
- 66
- Citations by year
- 2026: 5 · 2025: 20 · 2024: 16 · 2023: 13 · 2022: 17 · 2021: 17 · 2020: 12 · 2019: 16 · 2018: 12 · 2017: 9 · 2016: 9 · 2015: 14 · 2014: 16 · 2013: 5
- FWCI
- 10.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Critical Reviews™ in Oncogenesis (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Gaucher disease, lysosomal storage disease, hepatosplenomegaly, bone infarcts, osteoporosis, enzyme replacement therapy, substrate reduction therapy, investigational therapies
- MeSH terms
- Gaucher Disease, Humans, History, 19th Century, History, 20th Century, History, 21st Century
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