This profile was similar to that in the patient's lungs, suggesting that these lipids were present in brain perivascular macrophages. [ncbi.nlm.nih.gov]

Patients with type 2 disease may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly. [emedicine.medscape.com]

The treatment of Gaucher disease at present is mainly by enzyme replacement therapy which is expensive. In some severe cases HSCT is used to treat people with Gaucher disease. [cochranelibrary.com]

MAR 2001; 27 (2) : 489-495 Mao-R; O'-Brien-JF; Rao-S; Schmitt-E; Roa-B; Feldman-GL; Spence-WC; Snow-K Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detection [malattierare.regione.veneto.it]

• Splenomegaly

  […] thrombocytopenia or splenomegaly. [emedicine.medscape.com]

  JUN 2000; 26 (3) : 171-176 Khan-SB; Alkan-S; Pooley-R Pathologic quiz case - A 14-year-old boy with splenomegaly - Diagnosis: Gaucher disease ARCHIVES-OF-PATHOLOGY-AND-LABORATORY-MEDICINE. [malattierare.regione.veneto.it]

• Fatigue

  Due to these abnormal cells people with Gaucher disease will have pain, fatigue, anemia, jaundice and bone damage. Some forms of Gaucher disease may also cause neurological damage. [cochranelibrary.com]

  They may also have chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia. [emedicine.medscape.com]

• Hepatomegaly

  They may also have chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia. [emedicine.medscape.com]

• Strabismus

  Patients with type 2 disease may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly. [emedicine.medscape.com]

• Retinal Lesion

  Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). [ncbi.nlm.nih.gov]

• Seizure

  Symptoms include mental deterioration, ataxia, and myoclonic seizures. The cause of Gaucher disease III is the accumulation of a fatty material called glucocerebroside (also known as glucosylceramide) Treatment includes enzyme replacement therapy. [gii.co.jp]

  The neurological symptoms seen in types 2 and 3 include oculomotor apraxia (difficulty moving the eyes), opisthotonus (extreme backward arching of the spine), bulbar signs (problems with breathing, swallowing and talking) and seizures ( Beutler 2001 ; [cochranelibrary.com]

  Patients with type 2 disease may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly. [emedicine.medscape.com]

• Apraxia

  SEP 1 2000; 96 (5) : 1969-1978 Uyama-E Gaucher disease with oculomotor apraxia and cardiovascular calcification NEUROLOGY-. [malattierare.regione.veneto.it]

  Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. [emedicine.medscape.com]

  The neurological symptoms seen in types 2 and 3 include oculomotor apraxia (difficulty moving the eyes), opisthotonus (extreme backward arching of the spine), bulbar signs (problems with breathing, swallowing and talking) and seizures ( Beutler 2001 ; [cochranelibrary.com]

• Neurologic Manifestation

  Objectives To determine the role of HSCT in people with Gaucher disease in relation to: mortality risk associated with the procedure; efficacy in modifying the course of the disease; and arrest or regression of neurological manifestations in neuronopathic [cochranelibrary.com]

See Workup for more detail. [emedicine.medscape.com]

• Chitotriosidase Increased

  Hb decreased in four patients, PLT decreased in three patients, chitotriosidase increased in three patients (max. +22 % of baseline), and CCL18/PARC increased in six patients (+14 % to +57 %). The body weight was moderately decreased in one patient. [ncbi.nlm.nih.gov]

Measures of treatment effect In future updates, if we are able to include any trials, for dichotomous outcomes, we plan to estimate treatment effects using the risk ratio (RR). [cochranelibrary.com]

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis 2012 doi: 10.1007/s10545-012-9528-4 15. Deegan, PB, Cox TM. [rarediseases.org]

Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. [emedicine.medscape.com]

雑誌 Mol Genet Metab 83:6-15 (2004) DOI: 10.1016/j.ymgme.2004.08.015 文献 PMID: 12633142 著者 Wenger DA, Coppola S, Liu SL タイトル Insights into the diagnosis and treatment of lysosomal storage diseases. [genome.jp]

AUG 2000; 26 (4) : 285-290 Beutler-E Commentary: Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy BLOOD-CELLS-MOLECULES-AND-DISEASES. [malattierare.regione.veneto.it]

The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy. [emedicine.medscape.com]

Alternatively DNA analysis can be used to diagnose Gaucher disease and also to establish a disease prognosis ( Beutler 2006 ). Description of the intervention The treatment of Gaucher disease before the 1990s was essentially symptomatic. [cochranelibrary.com]

Epidemiology Frequency United States Type 1 Gaucher disease more common among Jewish people of Eastern European origin; the carrier frequency in these individuals is approximately 1 per 15 population, whereas the disease frequency is 1 per 855 population [emedicine.medscape.com]

The pathophysiological feature of Gaucher disease is the presence of Gaucher cells derived from the monocyte‐macrophage system. [cochranelibrary.com]

Pathophysiology Glucosylceramide, the accumulated glycolipid, is primarily derived from the phagocytosis and degradation of senescent leukocytes and erythrocyte membranes. [emedicine.medscape.com]

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci USA 2011; 108: 21200-21205. 23. Sardi AP, Clarke J, Vial C, Chan M, Tamsett TJ et al. [rarediseases.org]

This compound inhibits glucosylceramide synthase, preventing new synthesis of glucosylceramide. The clinical trials show it is effective in most people with mild and stable disease, but is less well‐tolerated. [cochranelibrary.com]

Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; PreventionGenetics Received research grant from: Alexion Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; Prevention [emedicine.medscape.com]