Effects of Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.

Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with β-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population.

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. : We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). : Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients' results.

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach.

Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphingolipid-rich cell membranes. In Gaucher disease, due to a deficit in beta-glucocerebrosidase activity, the phagocytozed substrate glucocerebroside cannot undergo further catabolism.

Two cases of neuronopathic form of Gaucher disease - diagnostic difficulties.

Background: Gaucher disease is one of the most common inherited lysosomal storage diseases caused by the deficiency of the enzyme β-glucocerebrosidase, leading to the accumulation of glucocerebroside. Depending on the clinical manifestations, two different forms of the disease are distinguished - the non-neuronopathic form (type 1) with a variety of presentations - from asymptomatic to symptomatic patients (characterized by hepatosplenomegaly, thrombocytopenia, anemia and osteopenia), and the neuronopathic form (known as types 2 and 3). Besides visceral, osseous, and hematopoietic organ lesions, neuronopathic forms are associated with central nervous system involvement (bulbar and pyramidal signs, horizontal saccadic eye movements, myoclonic epilepsy, progressive development delay).

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct genetic diagnosis, which offers the only possibility of providing the family with appropriate prevention and treatment. To address this issue, in this article, we present the clinical and genetic hallmarks of the lethal form of Gaucher disease (PLGD) and discuss the potential management.

Primary gastric Burkitt lymphoma-induced anaemia: a case report and a literature review.

Background: Primary tumours of the gastrointestinal tract are very uncommon in children. They can present with anaemia caused by gastrointestinal acute or chronic bleeding. One of the most common gastrointestinal tumours is Burkitt lymphoma.

Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.

Background: The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1).

Case Presentation: We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.

Liposomal amphotericin B and surgery as successful therapy for pulmonary Lichtheimia corymbifera zygomycosis in a pediatric patient with acute promyelocytic leukemia on antifungal prophylaxis with posaconazole.

Pulmonary zygomycosis, also referred to as mucormycosis, is a fungal infection of lungs caused by fungi of the order Mucorales in the class of Zygomycetes. It is usually associated with high morbidity and mortality. Here, we report the case of a 14-year-old girl with pediatric acute promyelocytic leukemia (APL) on antifungal prophylaxis with posaconazole, who developed pulmonary Lichtheimia corymbifera (formerly Absidia corymbifera) zygomycosis.

Gaucher's disease in Lithuania: its diagnosis and treatment.

Gaucher's disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher's disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinically, two forms of Gaucher's disease are defined: nonneuronopathic form, so-called type 1, characterized by hepatosplenomegaly, thrombocytopenia, anemia, and osteopenia, and neuronopathic form, known as types 2 and 3, which are also characterized by hepatosplenomegaly, hematological and bone changes; however, involvement of the central nervous system dominates in the clinical picture.

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

In 2007, the European Task Force for neuronopathic Gaucher disease (NGD) published a review of 55 patients across four countries. Although some observations were possible, analysis was difficult due to the absence of a systematic way of assessing patients. In response to this, a Severity Scoring Tool (SST) was devised to offer a systematic means of assessing the neurological presentation seen.