Back To Search Results

Gaucher Disease

Editor: Samip R. Master Updated: 11/12/2023 11:06:12 PM


Gaucher disease (pronounced as GO-SHEY) is an autosomal recessive inborn error of metabolism caused by mutations in the glucocerebrosidase (GBA1) gene[1]. GBA1 is an enzyme that cleaves the beta-glucosidic linkage of glucocerebroside lipids. 

Gaucher disease is a poignant testament to the intricate interplay between genetics, biochemistry, and clinical medicine. Named after the French physician Philippe Charles Ernest Gaucher, who first described it in 1882, this inherited metabolic disorder is characterized by the accumulation of lipids, specifically glucocerebroside, within various tissues and organs throughout the body. Gaucher disease can manifest in a spectrum of clinical presentations, with mild to severe symptoms affecting individuals of diverse ages and backgrounds.

Inborn errors of metabolism are particularly relevant in pediatrics since their presentation is very often (but not always) in the neonatal period of infancy. There are 5 known types of Gaucher disease: type 1, type 2, type 3, perinatal lethal, and cardiovascular. The perinatal lethal form is the most severe, and its complications can begin before birth or in early infancy.

Knowing the major manifestations of any inborn error of metabolism is the key to making a diagnosis. Inborn errors of metabolism primarily result from the lack (or insufficient levels) of specific enzymes needed: (1) to convert fat or carbohydrates to energy or (2) to break down amino acids or other metabolites, allowing them to accumulate and become toxic if not treated. Gaucher disease is a “toxic accumulation” inborn error of metabolism due to the accumulation of glucocerebroside lipids. Toxic accumulation inborn errors of metabolism fall into 3 major categories: localized toxicity, circulating toxicity, or a combination of both. Gaucher disease is an example of localized toxicity.


Register For Free And Read The Full Article
Get the answers you need instantly with the StatPearls Clinical Decision Support tool. StatPearls spent the last decade developing the largest and most updated Point-of Care resource ever developed. Earn CME/CE by searching and reading articles.
  • Dropdown arrow Search engine and full access to all medical articles
  • Dropdown arrow 10 free questions in your specialty
  • Dropdown arrow Free CME/CE Activities
  • Dropdown arrow Free daily question in your email
  • Dropdown arrow Save favorite articles to your dashboard
  • Dropdown arrow Emails offering discounts

Learn more about a Subscription to StatPearls Point-of-Care


The underlying cause of all forms of Gaucher disease is mutations in the GBA1 gene, resulting in a lysosomal deficiency of glucocerebrosidase activity. All forms of Gaucher disease lead to the toxic accumulation of glucocerebroside lipids, primarily in the liver, spleen, and bone marrow. A glucocerebroside is composed of a glucose molecule linked to the oxygen atom on carbon atom 1 of the sphingosine moiety of ceramide.

All forms of Gaucher disease are also classified as lysosomal storage disorders. There are at least 40 other lysosomal storage disorders, including mucopolysaccharidosis, Tay-Sachs disease, and Fabry disease[2]. All lysosomal storage disorders tend to worsen over time; in other words, they are progressive. Lysosomes are spherical intracellular organelles where many lipids and macromolecules are delivered for degradation by hydrolytic enzymes. Lysosomes are abundant in macrophages. The lysosomes in the macrophages of patients with Gaucher disease become progressively enlarged and filled with undigested glucocerebroside. The lysosomes can eventually be filled with undigested lipids that resemble "crumpled tissue paper" when visualized by electron microscopy. Without appropriate treatment, the liver can expand 2-fold to 3-fold its normal size and the spleen by 15-fold.

Despite knowing the precise genetic causes of most forms of Gaucher disease, the exact cause remains unknown. Patients with the same mutation can have very different signs and symptoms. It is also possible for patients with similar signs and symptoms to have very different genetic mutations. Environmental factors, as well as an individual's particular genetic makeup, most likely influence the phenotypic expression of Gaucher disease.


Gaucher disease is the most common autosomal recessive disease in the Ashkenazi (Eastern European) Jewish population, with a carrier frequency of 6% compared to 0.7% to 0.8% of the non-Jewish population. Cystic fibrosis (4% carrier frequency) and Tay-Sachs Disease (3.7% carrier frequency) are also common in the Ashkenazi population.[3]

The most common form of Gaucher disease is type 1, which has a very variable phenotype ranging from early childhood symptoms to no symptoms throughout life but typically does not have a neurological component. In contrast to type 1, types 2 and 3 are rare and affect the central nervous system. Both type 2 and the perinatal lethal type usually result in neonatal death, whereas type 3 results in mid to early adulthood death.


The signs and symptoms of Gaucher disease can be classified into visceral, hematologic, skeletal, and metabolic components. The visceral components include an enlarged liver and spleen (hepatosplenomegaly).

Hematological components can include thrombocytopenia, anemia, and leukopenia. Cerebroside accumulation in the bone marrow is thought to decrease platelet production, resulting in low platelet count. Similarly, cerebroside accumulation in the spleen is thought to result in an excessive breakdown of red blood cells, resulting in anemia and more active removal of white blood cells (WBC), resulting in a low WBC count. The rapid and premature destruction of blood cells can increase the risk of bleeding and infections.

The skeletal components can include bone crisis, the death of bone cells (called avascular necrosis or osteonecrosis), a low bone density compared to normal peak density, pathological bone fracture, and Erlenmeyer flask deformity. Much of these skeletal abnormalities are attributed to the buildup of glucocerebroside-laden macrophages in the bone marrow, where they restrict blood flow and the delivery of nutrients and oxygen, which can result in intense pain, bone cell necrosis, low bone density, and growth abnormalities.

Metabolic disturbances, especially disorders of nutrition and glucose metabolism, are observed in pediatric and adult patients with Gaucher disease. Abnormal body weight and related metabolic disturbances are common issues. An increased focus on detecting metabolic disturbances, especially nutritional status disorders, insulin resistance, and lipid alterations, is strongly recommended to optimize care management in affected patients.[4]


Classic glycolipid-laden macrophages are found in liver biopsy and bone marrow samples.

Liver biopsy samples typically reveal glycolipid-laden Gaucher cells evident in the sinusoids. Still, the hepatocytes do not manifest overt glycolipid storage because of biliary excretion of glucocerebroside and because the mononuclear phagocytes typically handle exogenous glycolipid turnover. As hepatocytes are spared, there is a very low incidence of liver failure in individuals with Gaucher disease.

The pathologic hallmark of Gaucher disease is Gaucher cells in the macrophage-monocyte system typically found in the bone marrow. These cells have a characteristic wrinkled-paper appearance, resulting from intracytoplasmic substrate deposition, and stain positive with periodic acid–Schiff. Histologic evaluation should not be used as a primary diagnostic tool.

History and Physical

Patients with Gaucher disease can present with several signs and symptoms, depending on the underlying type of disease. Commonly seen presenting signs and symptoms are as follows:

  • Painless hepatomegaly and splenomegaly
  • Hypersplenism and pancytopenia
  • Severe joint pains, most frequently affecting the hips and knees
  • Impaired olfaction and cognition (Type 1)
  • Severe convulsions, hypertonia, intellectual disability, and apnea (Type 2)
  • Myoclonus, seizures, dementia, and ocular muscle apraxia (Type 3)
  • Parkinsonism
  • Osteoporosis
  • Yellowish-brown skin pigmentation

The diagnosis of Gaucher disease depends upon finding a low GBA1 enzyme level in peripheral blood leukocytes and establishing the presence of mutant alleles in the GBA1 gene. Even though only a blood sample is needed to diagnose Gaucher disease, some patients undergo unnecessary invasive bone marrow or liver biopsy before making a correct diagnosis. Physician awareness of the signs and symptoms of Gaucher disease can help avoid such mishaps. Moreover, before an accurate diagnosis, many patients with an enlarged liver or spleen are told they could have cancer.[5]


Laboratory Studies

CBC Count

  • CBC and platelet count will assess the degree of cytopenia.

Liver Function Enzyme Testing

  • Mild elevation of liver enzyme levels is common; the presence of jaundice or abnormal hepatocellular synthetic function merits further study.


  • Regular monitoring should be performed.[6]

Enzyme Activity

  • Diagnosis is confirmed through measurement of glucocerebrosidase activity in peripheral blood leukocytes. Less than 15% of mean normal activity is diagnostic for Gaucher disease.

Genotype Testing

  • Molecular diagnosis is often helpful in Ashkenazi patients, in whom 6 GBA1 mutations (c.84insG, L444P, N370S,  IVS2+1g>a, V394L, and R496H) account for most disease alleles.
  • In some ethnicities, sequencing of the exons of GBA1 may be necessary to establish the genotype.
  • Mutation analysis has limited predictive value with respect to Gaucher disease progression. Avoid relying on PCR-based tests for individual mutations because they do not reveal the presence of recombinant alleles associated with greater disease severity.

Associated Marker Testing

  • Angiotensin-converting enzyme, total acid phosphatase, and ferritin levels are usually elevated. These levels may normalize with treatment.
  • Monitoring chitotriosidase enzyme is useful except in the 10% of the population with a deficiency in this protein.
  • Monitoring glucosylsphingosine levels may be useful, as the level has been shown to correlate with response to therapy.


  • Ultrasonography may reveal abdominal organomegaly.
  • MRI may be useful in revealing early skeletal involvement (avascular necrosis, spinal degradation, and degree of bone marrow infiltration).
  • Radiography may reveal skeletal manifestations and pulmonary involvement.
  • Dual-energy x-ray absorptiometry may evaluate osteopenia and bone crises.
  • Echocardiograms help evaluate the possibility of pulmonary hypertension.
  • In neuronopathic Gaucher disease, monitoring of EEG, brainstem-evoked potential, swallowing studies, and neuro-ophthalmologic evaluation should be done at regular intervals.

Bone Marrow Aspiration

  • In the past, the diagnosis was made by finding classic glycolipid-laden macrophages in bone marrow aspirate. 
  • Today, bone marrow aspiration is not the initial diagnostic test because the blood enzyme test is more sensitive, specific, and less invasive.

Liver Biopsy

  • A liver biopsy may be performed to evaluate unexplained hepatomegaly. However, a biopsy is rarely necessary because a specific diagnostic test is available.

Treatment / Management

Treatment for Gaucher disease falls into 2 categories: enzyme replacement therapy and substrate reduction therapy.[7] In general, enzyme replacement therapy provides an intravenous infusion containing the enzyme that is deficient or absent in the body. In the case of Gaucher disease, this would be the GBA1 enzyme (also called beta-glucosylceramidase or beta-glucocerebrosidase). The FDA has approved Cerezyme (imiglucerase) and VPRIV (velaglucerase alfa) for Gaucher disease types 1 and 3 enzyme replacement therapy. Enzyme replacement therapy typically cannot replace an enzyme deficient in the brain due to the blood-brain barrier and, therefore, is not effective for treating the central nervous system problems associated with types 2 and 3 Gaucher disease. Enzyme replacement therapy will help with the "non-brain" signs and symptoms associated with type 3 Gaucher disease, eg, enlarged organs and skeletal issues. Enzyme replacement therapy does not correct the underlying genetic defect and only relieves signs, symptoms, and ongoing damage caused by the accumulation of toxins. Moreover, it is possible to develop antibodies to the replacement enzyme.[7]

Substrate reduction therapy is an orally administered small-molecule drug (not protein) that relies on a strategy distinct from enzyme replacement therapy. In substrate reduction therapy, the goal is to reduce substrate levels such that toxic accumulation of the substrate's subsequent degradative product is diminished to a clinically less toxic level. In the case of Gaucher disease, the goal is to use substrate reduction therapies to inhibit the first committed step in glycosphingolipid biosynthesis. There are 2 FDA-approved substrate reduction therapy drugs to treat patients with Gaucher disease: eliglustat and miglustat. Eliglustat, a glucosylceramide synthase inhibitor, is indicated only for type 1 Gaucher disease and does not effectively cross the blood-brain barrier.[8] It is not yet known if eliglustat is safe or effective in children. Miglustat can cross the blood-brain barrier and potentially benefit types 2 and 3 Gaucher disease. Nevertheless, miglustat is currently indicated only for treating mild to moderate type 1 Gaucher disease in adults[7].

Hematopoietic stem cell transplantation is another option for treating Gaucher's disease. However, with the advent of enzyme and substrate replacement therapies, it has fallen out of favor, given its association with high morbidity and mortality risk. Currently, it is still a definitive treatment option for patients with type 3 Gaucher's disease.[9][10][11][12][13][14](A1)

Splenectomy is rarely used nowadays but can be useful in patients with uncontrolled and serious thrombocytopenia or with severe, uncontrolled abdominal pain.[15] Patients undergoing splenectomy should be counseled regarding the higher risk of infections and vaccinated against encapsulated organisms as per institutional policies. 

Future advancements in managing Gaucher disease will be looking to gene editing and gene therapy.[16][17](B3)

Differential Diagnosis

Differential diagnosis of Gaucher disease includes the following:

  • Multiple myeloma
  • Lewy body dementia
  • Niemann-Pick disease
  • Parkinson disease
  • Sphingomyelinase deficiency [18][19][20][21]


The prognosis of Gaucher disease varies significantly depending on several factors, including the type of the disease, the age at which it is diagnosed, the promptness of treatment initiation, and the individual's overall health. Here's an overview of the prognosis for different types of Gaucher disease:

Type 1 Gaucher Disease (Non-Neuropathic)

  • Individuals with Type 1 Gaucher disease can have a near-normal life expectancy with appropriate treatment.
  • Symptoms such as hepatosplenomegaly, anemia, and thrombocytopenia often improve with enzyme replacement therapy (ERT).
  • Bone disease may progress more slowly or stabilize with ERT, but residual skeletal abnormalities can persist.[22]

Type 2 Gaucher Disease (Acute Neuropathic Form):

  • Type 2 Gaucher disease is a severe and rapidly progressing form, primarily affecting infants.
  • The prognosis for Type 2 is generally poor, with a significantly reduced life expectancy.
  • Affected children often experience neurological decline and severe complications in infancy or early childhood.

Type 3 Gaucher Disease (Chronic Neuropathic Form):

  • Type 3 Gaucher disease is a milder form than Type 2, with a later onset of symptoms, typically in childhood or adolescence.
  • Prognosis varies widely, with some individuals having a relatively stable course while others may experience more significant neurological involvement.
  • Life expectancy is generally reduced compared to individuals with Type 1 Gaucher disease, but it is less severe than Type 2.

Perinatal Lethal Type Gaucher Disease                                                                                                                 

  • Perinatal lethal Gaucher disease is the most severe and rarest form of Gaucher disease.
  • It is characterized by the earliest onset of symptoms, often before birth or in the neonatal period.
  • The prognosis is extremely poor.
  • Most individuals do not survive beyond infancy, and the condition is typically fatal shortly after birth.
  • Due to the extreme severity of the disease, treatment options are limited, and enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) may not be effective.
  • The focus of care for these infants is often on palliative measures to provide comfort and support during their short lives.[23]

Cardiovascular Type Gaucher Disease                                                                                                                                                                                      

  • Cardiovascular type Gaucher disease is an exceedingly rare and atypical variant of Gaucher disease.
  • It primarily affects the cardiovascular system, leading to the deposition of glucocerebroside in the heart valves, arteries, and other vascular structures.
  • The severity can vary widely among affected individuals. Some may have mild symptoms, while others experience more significant cardiac issues.
  • The cardiac involvement may not respond as effectively to standard enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) as other forms of the disease.
  • Prognosis can be influenced by the promptness of diagnosis, the extent of cardiac involvement, and the availability of specialized cardiac care.

It is important to note that early diagnosis and timely initiation of treatment, particularly with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), can significantly improve the prognosis for Gaucher disease patients.[7] These treatments can alleviate many of the disease's symptoms, prevent complications, and improve overall quality of life.[24]


Complications of Gaucher disease stem from the progressive accumulation of glucocerebroside lipids within various organs and tissues. Among the most prevalent complications are skeletal manifestations, including osteopenia, osteoporosis, and pathological fractures, leading to chronic pain and impaired mobility. Hepatosplenomegaly, a common feature of the disease, may result in abdominal discomfort and an increased risk of bleeding and infection. Hematological complications such as anemia and thrombocytopenia can lead to fatigue and a heightened susceptibility to bruising and bleeding. Additionally, Gaucher disease may impact the lungs, causing interstitial lung disease, and can affect the central nervous system, leading to neurological complications in some cases. Understanding and managing these complications are crucial to improving the quality of life for individuals with Gaucher disease.[25]

Deterrence and Patient Education

Deterrence and patient education play pivotal roles in the management of Gaucher disease. Deterrence efforts primarily focus on genetic counseling and carrier screening within high-risk populations, such as Ashkenazi Jews, to inform individuals of their risk of carrying the disease-causing mutation and the potential for passing it to their offspring. Early identification of carriers can aid in informed family planning decisions.[1]

Patient education is instrumental in empowering affected individuals with Gaucher disease and their families. Educating patients about the nature of the disease, its potential complications, available treatment options like enzyme replacement therapy and substrate reduction therapy, and the importance of regular monitoring fosters informed decision-making and adherence to therapy. Education can also help patients recognize the signs of disease progression or complications, promoting timely medical intervention and ultimately improving the overall prognosis and quality of life for those with Gaucher disease.[1][26]

Patients should also be made aware that researchers have established an association between Gaucher disease and a slightly elevated risk of developing Parkinson disease later in life, a phenomenon also observed in carriers of Gaucher disease. For individuals with Gaucher disease, the risk of developing Parkinson disease by age 70 is approximately 5%, increasing to approximately 8% by age 80. Gaucher disease carriers face a risk of developing Parkinson disease by age 70 at about 3%, with a further slight increase observed by age 80. Mutations in the GBA gene represent the most frequently identified genetic risk factor for Parkinson's disease.[27][28]

Enhancing Healthcare Team Outcomes

Enhancing patient-centered care and improving outcomes for Gaucher's disease, a complex lysosomal storage disorder, necessitates a multidisciplinary approach involving physicians, advanced care practitioners, nurses, pharmacists, and various healthcare professionals.

Each healthcare team member should possess specialized knowledge and skills related to Gaucher disease, including understanding the genetic basis, clinical manifestations, diagnostic criteria, and treatment options. Physicians and advanced care practitioners may lead diagnosis and treatment, nurses monitor patient progress, and pharmacists manage medication regimens. A cohesive care plan encompasses all aspects of Gaucher disease management, including medical, psychological, and social needs.

Each team member is crucial in ensuring patients receive comprehensive and effective care. Physicians often refer patients to specialists as needed. Healthcare professionals should engage in continuing education activities to stay updated on advances in Gaucher disease management. 

Gaucher disease management demands a collaborative and patient-centered approach that draws upon the expertise of various healthcare professionals. By fostering clearly defined roles and effective communication, an interprofessional team provides optimal care and improves outcomes for individuals with this challenging condition.



Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International journal of molecular sciences. 2017 Feb 17:18(2):. doi: 10.3390/ijms18020441. Epub 2017 Feb 17     [PubMed PMID: 28218669]


Ferreira CR, Gahl WA. Lysosomal storage diseases. Translational science of rare diseases. 2017 May 25:2(1-2):1-71. doi: 10.3233/TRD-160005. Epub 2017 May 25     [PubMed PMID: 29152458]


Wang M, Li F, Zhang J, Lu C, Kong W. Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis. Journal of pediatric hematology/oncology. 2023 May 1:45(4):181-188. doi: 10.1097/MPH.0000000000002506. Epub 2022 Jul 22     [PubMed PMID: 35867706]

Level 1 (high-level) evidence


Kałużna M, Trzeciak I, Ziemnicka K, Machaczka M, Ruchała M. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet journal of rare diseases. 2019 Dec 2:14(1):275. doi: 10.1186/s13023-019-1211-5. Epub 2019 Dec 2     [PubMed PMID: 31791361]


Giraldo P, Andrade-Campos M, Morales M, SEGA (SEguimiento del paciente de GAucher, Gaucher patient follow‐up) Group. Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey. JIMD reports. 2023 Jan:64(1):90-103. doi: 10.1002/jmd2.12342. Epub 2022 Nov 8     [PubMed PMID: 36636594]

Level 3 (low-level) evidence


Linari S, Castaman G. Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications. Journal of clinical medicine. 2022 Nov 24:11(23):. doi: 10.3390/jcm11236920. Epub 2022 Nov 24     [PubMed PMID: 36498496]


Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Molecular genetics and metabolism. 2017 Jan-Feb:120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17     [PubMed PMID: 27916601]


Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. American journal of hematology. 2017 Nov:92(11):1170-1176. doi: 10.1002/ajh.24877. Epub 2017 Oct 3     [PubMed PMID: 28762527]


Ringdén O, Groth CG, Erikson A, Granqvist S, Månsson JE, Sparrelid E. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation. 1995 Mar 27:59(6):864-70     [PubMed PMID: 7701581]


Erikson A, Groth CG, Månsson JE, Percy A, Ringdén O, Svennerholm L. Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Acta paediatrica Scandinavica. 1990 Jun-Jul:79(6-7):680-5     [PubMed PMID: 2386062]


Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. The New England journal of medicine. 1984 Jul 12:311(2):84-8     [PubMed PMID: 6377066]

Level 3 (low-level) evidence


Chavananon S, Sripornsawan P, Songthawee N, Chotsampancharoen T. Successful Treatment of Gaucher Disease With Matched Sibling Hematopoietic Stem Cell Transplantation: A Case Report and Literature Review. Journal of pediatric hematology/oncology. 2021 Nov 1:43(8):e1153-e1155. doi: 10.1097/MPH.0000000000002129. Epub     [PubMed PMID: 33661172]

Level 3 (low-level) evidence


Steward CG, Jarisch A. Haemopoietic stem cell transplantation for genetic disorders. Archives of disease in childhood. 2005 Dec:90(12):1259-63     [PubMed PMID: 16301554]


Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. The Cochrane database of systematic reviews. 2017 Oct 18:10(10):CD006974. doi: 10.1002/14651858.CD006974.pub4. Epub 2017 Oct 18     [PubMed PMID: 29044482]

Level 1 (high-level) evidence


Zimran A, Elstein D, Schiffmann R, Abrahamov A, Goldberg M, Bar-Maor JA, Brady RO, Guzzetta PC, Barton NW. Outcome of partial splenectomy for type I Gaucher disease. The Journal of pediatrics. 1995 Apr:126(4):596-7     [PubMed PMID: 7699540]


Sam R, Ryan E, Daykin E, Sidransky E. Current and emerging pharmacotherapy for Gaucher disease in pediatric populations. Expert opinion on pharmacotherapy. 2021 Aug:22(11):1489-1503. doi: 10.1080/14656566.2021.1902989. Epub 2021 Mar 25     [PubMed PMID: 33711910]

Level 3 (low-level) evidence


Enquist IB, Nilsson E, Ooka A, Månsson JE, Olsson K, Ehinger M, Brady RO, Richter J, Karlsson S. Effective cell and gene therapy in a murine model of Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America. 2006 Sep 12:103(37):13819-24     [PubMed PMID: 16954197]

Level 3 (low-level) evidence


Di Rocco M, Vici CD, Burlina A, Venturelli F, Fiumara A, Fecarotta S, Donati MA, Spada M, Concolino D, Pession A. Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency. Orphanet journal of rare diseases. 2023 Jul 21:18(1):197. doi: 10.1186/s13023-023-02797-0. Epub 2023 Jul 21     [PubMed PMID: 37480063]

Level 3 (low-level) evidence


Bossù G, Pedretti L, Bertolini L, Esposito S. Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma. Children (Basel, Switzerland). 2023 May 12:10(5):. doi: 10.3390/children10050869. Epub 2023 May 12     [PubMed PMID: 37238417]


Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC. Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease. Molecular genetics and metabolism. 2023 May:139(1):107563. doi: 10.1016/j.ymgme.2023.107563. Epub 2023 Mar 30     [PubMed PMID: 37086570]


Garça M, Correia S, Goulart A, Ávila P. Gaucher Disease: One of the Few Causes of Massive Splenomegaly. European journal of case reports in internal medicine. 2022:9(12):003705. doi: 10.12890/2022_003705. Epub 2022 Dec 19     [PubMed PMID: 36632535]

Level 3 (low-level) evidence


Louw VJ, Fraser I, Giraldo P. Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice. PloS one. 2023:18(8):e0290401. doi: 10.1371/journal.pone.0290401. Epub 2023 Aug 22     [PubMed PMID: 37607165]

Level 3 (low-level) evidence


Chida R, Shimura M, Ishida Y, Suganami Y, Yamanaka G. Perinatal lethal Gaucher disease: A case report and review of literature. Brain & development. 2023 Feb:45(2):134-139. doi: 10.1016/j.braindev.2022.09.006. Epub 2022 Oct 8     [PubMed PMID: 36220738]

Level 3 (low-level) evidence


Feng J, Gao Z, Shi Z, Wang Y, Li S. Patient-reported outcomes in Gaucher's disease: a systematic review. Orphanet journal of rare diseases. 2023 Aug 25:18(1):244. doi: 10.1186/s13023-023-02844-w. Epub 2023 Aug 25     [PubMed PMID: 37626429]

Level 1 (high-level) evidence


Lu WL, Chien YH, Tsai FJ, Hwu WL, Chou YY, Chu SY, Li MJ, Lee AJ, Liao CC, Wang CH, Lee NC. Changing clinical manifestations of Gaucher disease in Taiwan. Orphanet journal of rare diseases. 2023 Sep 15:18(1):293. doi: 10.1186/s13023-023-02895-z. Epub 2023 Sep 15     [PubMed PMID: 37715271]


Collin-Histed T, Rosenberg A, Hopman N, Pacey J. Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey. Orphanet journal of rare diseases. 2023 Jan 7:18(1):5. doi: 10.1186/s13023-022-02576-3. Epub 2023 Jan 7     [PubMed PMID: 36611195]

Level 3 (low-level) evidence


Wilke MVMB, Poswar F, Borelli WV, Michelin Tirelli K, Randon DN, Lopes FF, Pasetto FB, Sebastião FM, Iop GD, Faqueti L, da Silva LA, Kubaski F, Schuh AFS, Giugliani R, Schwartz IVD. Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF. Orphanet journal of rare diseases. 2023 Oct 2:18(1):309. doi: 10.1186/s13023-023-02875-3. Epub 2023 Oct 2     [PubMed PMID: 37784132]


Hertz E, Lopez G, Lichtenberg J, Haubenberger D, Tayebi N, Hallett M, Sidransky E. Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease. Journal of movement disorders. 2023 Sep:16(3):321-324. doi: 10.14802/jmd.23074. Epub 2023 Jun 13     [PubMed PMID: 37309111]