A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help diagnose Gaucher disease (GD) and distinguish between disease types, a study has found. The test proved useful in diagnosing newborns and was also accurate in placenta samples, suggesting that it could help diagnose the…
Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests. The study, “A case of bony lytic lesions in a patient with Gaucher disease,” was published in the journal…
Prevail Therapeutics is asking the U.S. Food and Drug Administration (FDA) to approved a request to open clinical trials, at higher doses than initially planned, into its investigational gene therapy PR001 in people with pediatric neuronopathic Gaucher’s disease (type 2). In its updated Investigational New Drug (IND)…
A new mutation, H413P, that may be associated with severe symptoms was discovered in a Chinese baby with perinatal lethal Gaucher disease, a case report suggests. The report, “A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations,” appeared…
Gaucher disease may have very distinct manifestations, even among genetically similar people with the same mutation in the GBA gene. Early diagnosis and treatment are key to avoid severe consequences of the condition, a case report suggests. The study, “Two siblings with Gaucher type 3c: different…
Manifestations in the eye are rare symptoms of Gaucher disease that can affect patients with all disease subtypes, a review study suggests. These symptoms should be diagnosed and treated early to avoid complications, including loss of sight. The study, “Ophthalmic manifestations of Gaucher disease: the most common lysosomal…
Morocco needs better facilities specialized in the screening, diagnosis, and management of Gaucher disease to prevent underdiagnosis of the disorder, a report of two cases suggests. Additionally, clinicians should consider other disease markers besides β-glucocerebrosidase, due to the fact that nearly 1 in 5 patients…
Cascade screening — a systematic analysis performed in a family to identify the risk of any member developing a genetic disease — should be performed in families with a genetic predisposition to conditions such as Gaucher disease, a case report suggests. The study, “Three cases of multi-generational…
Chronic anemia that does not respond to iron supplements might be a warning sign of Gaucher disease (GD) in children and could help with early diagnosis, a case report suggests. The report, “Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia,” was published in the International Journal of…