News

A new mutation on the DNA coding sequence of the beta-glucocerebrosidase enzyme was identified and linked to Gaucher disease (GD) type 1 in a Japanese patient, according to a case report. For patients with this mutation, positron emission tomography/computed tomography (PET/CT) imaging scans may provide a clue to Gaucher…

A computational analysis added insight on the molecular effects of mutations linking Gaucher disease (GD) and susceptibility to Parkinson’s disease (PD).  The study identifies one mutation that may serve as a potential target for treating both conditions. The study, “…

An excess of sphingolipids — a hallmark of Gaucher disease — contributes to an imbalance in bone formation and degradation, leading to the development of bone disease, according to researchers. Their study, “Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease,” was published in the journal…

The similar clinical and laboratory features of primary myelofibrosis (PMF) — a disease of the liver, blood, and bone marrow — and Gaucher disease may sometimes result in a misdiagnosis of the patient, a case report shows. The report, “Gaucher Disease and Myelofibrosis: A Combined Disease or…

Patients with Gaucher disease type 1 (GD1) may exhibit neurological symptoms at a young age, requiring the use of genetic testing for diagnosing the specific disease type and developing a treatment plan, researchers advise in a recent study. The study, “Are There Neurological Symptoms in Type…

Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a diagnostic and treatment-response biomarker of Gaucher disease. The study, “A HILIC-MS/MS Method for Simultaneous Quantification of the Lysosomal Disease Markers Galactosylsphingosine and Glucosylsphingosine in Mouse Serum,” was…

Brain inflammation in Gaucher disease and two other lysosomal disorders is not caused by infiltrating macrophages to the central nervous system, but instead is likely caused by resident immune cells of the brain, a mouse study suggests. The study, “Absence of infiltrating peripheral myeloid cells in…

Laparoscopy, a minimally invasive surgery also known as keyhole surgery, was successful at resecting a large painful cyst from the spleen of a type 1 Gaucher disease patient. This case study supports laparoscopy as a potential alternative to more invasive approaches, namely splenectomy — the surgical removal of the…

Simple algorithms and rapid tools such as dried blood spot assays can help speed diagnosis, avoid unnecessary biopsies, and enable more effective management of Gaucher disease (GD) type 1, according to a review study. The review, “…

Liver transient elastography, a noninvasive technique that measures liver stiffness, can be used to evaluate whether enzyme replacement therapy is improving liver symptoms in children with Gaucher disease, a new case report suggests. The study, “Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease,” was published in…