Accumulation Of Glucocerebroside Research Articles

Gaucher’s Disease – current state of knowledge and future perspectives?

Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations. In this review we aimed to underscore the challenges it presents and the ongoing efforts to overcome them. State of knowledge: GD, characterized by the accumulation of glucocerebroside, involves molecular, cellular, and systemic dysfunctions. At the molecular level, mutations in the GBA gene give rise to diverse manifestations, influencing disease severity. Cellular disruptions lead to lysosomal dysfunction, altered calcium homeostasis, and chronic inflammation, impacting various organ systems. Diagnostic approaches involve biomarkers, genetic testing, and imaging studies, each playing a crucial role in confirming the disease type and assessing its grade. Summary: Management and treatment strategies for GD have evolved, with enzyme replacement therapy and substrate reduction therapy serving as the basics. However, challenges persist, including limited efficacy in treating neurological symptoms and the high cost of treatments. The review highlights ongoing research and future perspectives in GD therapy.

The role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature

BackgroundGaucher disease (GD) is a lysosomal storage disease that leads to the accumulation of glucocerebroside within reticuloendothelial cells, haematological, neurological, skeletal and abdominal organs. These clinical manifestations are common to all types of GD, but categorization depends on the absence of neurological involvement (type I) or its presence (type II and III). Cardiac involvement is rare and only reported in few cases, where valvular and aortic calcifications were associated with type IIIc. Other cardiac manifestations, such as constrictive pericarditis, pulmonary hypertension, myocardial infiltration, and restrictive cardiomyopathy, had also been reported.Case presentationWe report a case of a 72-year-old patient with known type 1 GD who presented with a sudden syncope during exercise. He reported also an exercise intolerance evolving for three months. Echocardiography found concentric left ventricular hypertrophy with segmental hypokinesis, bi-atrial enlargement, and mildly reduced ejection fraction. Mitral flow was in favour of grade II diastolic dysfunction with elevated filling pressure. Cardiac magnetic resonance (CMR) showed interstitial fibrosis in the basal infero-septal wall, probably due to the myocardial infiltration of GD. Due to the lack of echocardiographic and CMR hallmarks of cardiac GD, we conducted a literature review on similar findings.ConclusionThis case illustrates the importance of non-invasive cardiac imaging in the diagnosis, prognosis and management of cardiac manifestations of GD.

Value of the Myelogram in the Diagnosis of Gaucher Disease: Two Cases Report

Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.

Gaucher Disease Type I and III Responded Well to Substrate Reduction Therapy Using Eliglustat.

Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into type I (without CNS disorders), II, and III. Substrate reduction therapy (SRT) is an oral therapy that improves patients' quality of life; however, its effect on type III GD is unknown. We administered SRT to GD type I and III patients and found it effective. Malignancy is a late complication of GD, but this is the first report of Barrett adenocarcinoma.

Gaucher disease type 3 presenting with deformation of inferior limbs and bone infarction: A case report

Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by the accumulation of glucocerebroside in various cells throughout the body. Bone infarction is a common and fearsome complication. Case Report: We present the case of a 5-year-old child diagnosed with Gaucher disease type 3, who exhibited deformation of the inferior limbs and bone pain. Upon evaluation, radiographic examination of the limbs revealed a characteristic triangular appearance of the metaphysis and a serpiginous sclerotic area. A magnetic resonance imaging was performed to confirm the diagnosis of bone infarction. Conclusion: Gaucher disease is a complex genetic disorder. Bone involvement is a significant manifestation causing pain, bone crises, deformities. Various imaging techniques can help for an accurate diagnosis and for a timely intervention and prevention of the disease progression.

ХИРУРГИЧЕСКОЕ ЛЕЧЕНИЕ ТЯЖЕЛОЙ КИФОСКОЛИОТИЧЕСКОЙ ДЕФОРМАЦИИ ПОЗВОНОЧНИКА У ДВЕНАДЦАТИЛЕТНЕЙ ПАЦИЕНТКИ С БОЛЕЗНЬЮ ГОШЕ 3-го ТИПА: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ

Gaucher disease (GD) is an autosomal recessive genetic disease characterized by the accumulation of glucocerebroside in the lysosomes of macrophages of the reticuloendothelial system with the development of cytopenia, hepatosplenomegaly, bone lesions, and, in some cases, neurological disorders. Skeletal manifestations vary in severity and usually affect long bones with clinical presentation of bone pain, bone crises, avascular necrosis, decreased bone mineral density, and pathological fractures. Involvement of the spine and chest in the form of their deformities has an unclear mechanism of development and is mostly applied in neuronopathic forms of the disease, in particular, the type 3 GD. The authors represent a unique clinical case of successful treatment of severe kyphoscoliotic deformity in an adolescent with the type 3 GD. The routine monitoring of the spine in patients with chronic neuronopathic GD is necessary in order to perform the timely surgical intervention and to prevent the progression of the spinal deformity and neurological deficit.

PB2361: PREDIGA, EDUCATIONAL AND DIAGNOSIS PROJECT IN ACID SPHINGOMYELINASE DEFICIENCY DISEASE (ASMD) AND GAUCHER DISEASE (GD): RESULTS TO THE OBJECTIVE ACHIEVED OF 200 PATIENTS ANALYZED.

Background: Acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD) are lysosomal disorders caused by deficiency of lysosomal enzymes acid beta-glucosidase and acid sphingomyelinase. These enzyme deficiencies cause accumulation of glucocerebroside and sphingomyelin, respectively, mainly in macrophages, inducing deterioration of the organs in which they accumulate. Theoretical prevalence of ASMD is 0.4 per 100,000 and GD is 1 per 40,000. The absence of epidemiological studies in Spain leads us to believe that ASMD is highly underdiagnosed, and that the incidence of GD data is still to be defined. The consequences of undertreatment and the availability of effective therapies make it increasingly necessary to promote awareness and knowledge of these diseases and their diagnostic algorithms. Aims: The main objective of this study is to identify patients with idiopathic splenomegaly or splenectomy as well as to promote awareness and knowledge of ASMD and GD and their diagnosis algorithm through a national medical education program. Prevalence of ASMD and GD in patients with idiopathic splenomegaly or splenectomy will be also established. Methods: Regarding educational program, the participating centers lead clinical sessions as part of the PREDIGA education program. It was planned to impart about 100 clinical sessions within the medical education program and reach 200 patients fulfilling diagnostic criteria for ASMD and GD in the recruitment process. In addition, PREDIGA project included an epidemiological, clinical, observational, non-interventional, multicenter, retrospective and prospective, cross-sectional with a single cohort study. The study population included adults and children with idiopathic splenomegaly or splenectomy. We performed a retrospective (5 years) and prospective review (2 years) of medical records to detect sustainable patients. In a single visit, the informed consent form was signed and the patient’s clinical data were recorded. We used the usual clinical procedures to collect a blood sample for Dry Blood Spot (DBS) to perform enzymatic, genetic, and biomarkers analyses. The analysis of the samples was performed in the Archimed laboratory using ArchimedLife platform. The diagnostic algorithm for the analysis of the samples included two steps: first, enzymatic analysis was performed and if the result was positive or doubtful, genetic analysis was performed to confirm the positive result for ASMD or GD. In addition, samples which results were positive for ASMD or GD were subjected to analysis of the biomarkers Lyso-Gl1 or Lyso-SM. Results: 52 HCPs (22 Hematologists/ 18 Internal Medicine/ 12 Pediatricians) from 34 hospitals had implemented the medical education program and epidemiological searching in their health area of influence for 2 consecutive years. To date, 49 educational sessions, on-site and virtual, have been held by research team with 1000 assistants. A total of 206 patients’ blood samples have been collected to perform a DBS. Results to date have revealed the diagnosis of 2 ASMD and 4 GD patients derived from the epidemiological program. Thanks to implementation of this educational program 2 ASMD and 1 GD patients were diagnosed. Therefore, in this study the prevalence of ASMD and GD in patients with idiopathic splenomegaly or splenectomy is 0.97% and 1.9% respectively. Summary/Conclusion: The medical educational plan and the epidemiological study derived of this project have increased awareness of these conditions allowing the diagnosis of new ASMD and GD patients and better define the prevalence of these diseases in this cohort.

A simultaneous diagnosis of multiple myeloma and Gaucher disease

Gaucher disease (GD) is a rare autosomal recessive metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase, required for the degradation of glycosphingolipids. This leads to the accumulation of glucosylceramide and glucosylsphingosine in lysosomal macrophages (Gaucher cells). The diagnosis of GD should be made on the deficiency of the glucocerebrosidase activity (GBA) in leukocytes, fibroblasts, and/or dried blood spots, but also be confirmed through molecular analysis of the GBA gene. GD is linked to an increased risk of cancer in general, and hematological malignancies in particular. Due to an excessive accumulation of glucocerebroside in bone marrow, both cytopenia and bone lesions can be seen in GD, which are clinical presentations that may overlap with multiple myeloma (MM). We report here the case of a patient with synchronous GD and MM, with the description of the evolution.

РЕДКОЕ НАБЛЮДЕНИЕ РЕАКЦИИ ГИПЕРЧУВСТВИТЕЛЬНОСТИ НА ПРЕПАРАТЫ ДЛЯ ФЕРМЕНТНОЙ ЗАМЕСТИТЕЛЬНОЙ ТЕРАПИИ У РЕБЕНКА С БОЛЕЗНЬЮ ГОШЕ 3-го ТИПА

Gaucher disease (GD) is an autosomal recessive disease that leads to excessive accumulation of glucocerebroside in the cells of the reticuloendothelial system, which leads to multiple organ damage with the development of cytopenia, hepatosplenomegaly, bone and neurological pathology. An effective and safe enzyme replacement therapy has been developed for the treatment of GD. However, there are rare cases of hypersensitivity reactions presented in the literature, requiring individualization of patient management with the search for alternative ways to continue therapy and prevent side effects. We present a rare clinical case of intolerance to imiglucerase and velaglucerase alfa in a child with GD type 3 and possible methods for continuing treatment, taking into account the hypersensitivity reaction.

Anaesthetic implications for splenectomy in a child with Gaucher’s disease

Gaucher’s disease, a lysosomal storage disorder, is caused by an inherited deficiency of beta glucocerebrosidase enzyme leading to the accumulation of glucocerebroside in the reticuloendothelial system. Patients with this disease often manifest coagulation abnormalities and multi-organ complications. These factors present a challenge to the anaesthesiologist, in deciding the type as well as the conduct of anaesthesia. We aim to report the anaesthetic management in a 3-years old child with Gaucher’s disease posted for splenectomy.

SARS-CoV-2 infection and COVID‒19 in Gaucher disease: indications for vaccination

At the start of the pandemic caused by the novel coronavirus (SARS-CoV-2), the Gaucher disease community anticipated that infection with this emerging viral pathogen would be associated with high morbidity and mortality in individuals with this chronic metabolic disorder. Surprisingly, however, preliminary studies suggest that Gaucher disease does not confer a higher risk of severe, life-threatening effects of SARS-CoV-2 infection, and no severe cases have been reported in large cohorts of patients from the United States, Europe and Israel. It is thought that the accumulation of glucocerebroside in the cells of Gaucher patients may promote immune tolerance rather than inflammation on exposure to SARS-CoV-2. We review here the current concepts of Gaucher disease and SARS-CoV-2 infection, focusing particularly on general prevention and vaccination. We also discuss the susceptibility to COVID-19 of patients with inborn errors of type 1 interferon (IFNα and IFNω) immunity. Orv Hetil. 2021; 162(24): 938-942.

Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector

Gaucher disease type 1 (GD1) is an inherited lysosomal disorder with multisystemic effects in patients. Hallmark symptoms include hepatosplenomegaly, cytopenias, and bone disease with varying degrees of severity. Mutations in a single gene, glucosidase beta acid 1 (GBA1), are the underlying cause for the disorder, resulting in insufficient activity of the enzyme glucocerebrosidase, which in turn leads to a progressive accumulation of the lipid component glucocerebroside. In this study, we treat mice with signs consistent with GD1, with hematopoietic stem/progenitor cells transduced with a lentiviral vector containing an RNA transcript that, after reverse transcription, results in codon-optimized cDNA that, upon its integration into the genome encodes for functional human glucocerebrosidase. Five months after gene transfer, a highly significant reduction in glucocerebroside accumulation with subsequent reversal of hepatosplenomegaly, restoration of blood parameters, and a tendency of increased bone mass and density was evident in vector-treated mice compared to non-treated controls. Furthermore, histopathology revealed a prominent reduction of Gaucher cell infiltration after gene therapy. The vector displayed an oligoclonal distribution pattern but with no sign of vector-induced clonal dominance and a typical lentiviral vector integration profile. Cumulatively, our findings support the initiation of the first clinical trial for GD1 using the lentiviral vector described here.

Gaucher Disease Type I: A Case Report

Abstract Gaucher disease (GD) is a multi-systemic disease with a low population frequency. It is a lysosomal storage disorder (LSD) that causes accumulation of glucocerebroside in the so called Gaucher cells predominantly in areas like the spleen, liver and bone marrow. Type I GD (GDI) is the most common form and usually does not involve the brain and the spinal cord. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Diagnostics can often be challenging and imposes looking at person’s medical history, symptoms, physical exam, and laboratory test results. We present a difficult to diagnose case of a 34-year-old woman admitted to the Clinic of Hematology, “Sv. I. Rilski” hospital with splenomegaly, normal laboratory findings and non-enlarged liver. She didn’t show focal neurological symptoms. A series of tests were assigned including genetic targeted analysis. The case is an example of a rare genetic disease with mild clinical symptoms. Diagnosis of Gaucher disease, type I was confirmed by measurement of a GBA enzyme activity and identification of mutations in the GBA gene inherited in an autosomal recessive manner. Thanks to the efforts of the clinical team, the assignment of adequate clinical and laboratory tests and their correct interpretation, the patient was subjected to enzyme replacement therapy (ERT). Although the diagnosis was settled relatively late (at 34 years of age), the correct therapy slowed down the invalidation and improved the quality of life of the patient.

Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience

BackgroundGaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency of acid β-glucosidase activity, with consequent accumulation of glucocerebroside. Less than 15% of mean normal acid β-glucosidase activity in leukocytes is the gold standard for the diagnosis of Gaucher disease, and is generally supplemented by a massive elevation in chitotriosidase activity. We report here our experience in the biochemical diagnosis of Gaucher disease by showing the heterogeneity of the activity of enzymes over 25 years from 1993-2017, through the analysis of 5128 clinically suspected Gaucher disease cases referred to the Biochemical Genetics Department, National Research Centre, as the main reference lab in Egypt for the diagnosis of Inherited Metabolic Disorders. MethodsAcid β-glucosidase and chitotriosidase activities were measured in all referred cases. Sphinogmylinase activity was estimated for all cases with normal β-glucosidase activity and moderate elevation of chitotriosidase. ResultsOut of the 5128 suspected cases, 882 (17%) showed a deficiency in acid β-glucosidase activity, accompanied by a raised chitotriosidase activity, ranges (213-66700 umol/l/h) and mean (7255 umol/l/h). Deficient chitotriosidase activity was found in 9 patients (1%) with low β-glucosidase. 451 cases were diagnosed with acid sphingomyelinase deficiency patients (8.8%). ConclusionOther biochemical markers are needed in addition to chitotriosidase for the diagnosis and follow up. Molecular testing was done to a relatively small number but needs to be done to all diagnosed patients as many mutations are known to predict the course of the disease.

Twenty-Five Years of Biochemical Diagnosis of Gaucher Disease: The Egyptian Experience

Background: Gaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency in β-glucocerebrosidase enzyme, with consequent accumulation of glucocerebroside. Less than 15% of mean normal activity β-glucocerebrosidase in leukocytes is the gold standard for the diagnosis of Gaucher disease, which is supplemented by a massive elevation in chitotriosidase enzyme activity. We report here our experience in the biochemical diagnosis of Gaucher disease by showing the variability and the heterogeneity of the activity of enzymes over 25 years from 1993-2017, through referring 5128 clinically suspected Gaucher disease cases to our Biochemical Genetics Department, National Research Centre, as the main reference lab in Egypt for the diagnosis of Inherited Metabolic Disorders. Methods: β-glucosidase enzyme activity and chitotriosidase were done to all referred cases. Sphinogmylinase activity was estimated for all cases with normal activity of β- glucosidase and moderate elevation of chitotriosidase. Results: Out of the 5128 suspected cases, 881 (17%) had deficiency in β-glucocerebrosidase activity, accompanied with high chitotriosidase activity level, ranges (213-66700 μmol/l/h) and mean (7254.8 μmol/l/h). Zero chitotriosidase activity is found in 9 patients (1%) with low β-glucosidase. 451 cases were diagnosed as Niemann Pick patients (8.8%). Discussion and Conclusion: Other biochemical markers are needed in addition to chitotriosidase enzyme for the diagnosis. Molecular testing was done in relatively small numbers and need to be available parallel with biochemical testing.

Prospective National-Base Multicenter Study to Standardize the Follow-up of Type 1Gaucher Disease Patients Treated with Eliglustat Under Standard of Care Practice. Trazelga Project

Type 1 Gaucher disease (GD1) is caused by the deficiency in the lysosomal enzyme glucocerebrosidase and causes the accumulation of glucocerebroside mainly in macrophages, inducing deterioration of the organs in which it is deposited.The new substrate inhibitor Eliglustat (ELI), approved by EMA in 2015 and available in Spain since January 2017, has proved to be an effective therapy that selectively inhibits the enzyme glucosylceramide synthase, decreasing the accumulation of substrate. It is indicated in GD1 extensive, intermediate or poor metabolizers of the cytochrome CYP2D6. The phase 2 and 3 clinical trials have demonstrated improvement and stabilization of the parameters in the naïve patients and in switched from enzyme replacement therapy. In this work we present the design of a prospective follow-up post-authorization study (GEE-ELI-2017-01) to asure the traceability of eliglustat therapy in Spanish GD1patients (TRAZELGA) is exposed. MethodsThe national multi-center study TRAZELGA, designed as a tool to uniformly evaluate the response to ELI therapy during one year, analyzing clinical parameters, biomarkers, changes in medullary infiltration quantified by MRI and DEXA, compliance and side effects. In addition, a quality of life sub-study is included as well as an exploratory study to analyze immune system activation markers (cytokine profile, ferritin, lipocalin, gamma globulins, oxidative stress markers). All the current recommendations previous ELI therapy have been reinforced, including cardiac, hepatic and renal function assessment and suitability according concomitant medications. An electronic tool has been designed to help physicians to easily registry and update the patient information. All the current rules for data protection were taken in account. Results: 40 GD1 patients have started oral treatment with Eliglustat. In this presentation we provide preliminary results of 32 patients whom fulfilled 6 months of follow-up (median age: 43.8 years (23-75), 47% males), genotype c.1226A>G in homozygosity (29.4%), c.1226A>G/c.1448T>C (41.2% ), other double heterozygotes with c.1226A>G (29.4%); metabolism of CYP2D6 (12% poor metabolizers, 64.5% intermediate and 33.5% extensive), no patient received the treatment in first line and its baseline characteristics (table1), are from patients stabilized with ERT (23 cases) or miglustat (9).Two splenectomized patients, 3 patients with palpable splenomegaly at the time of inclusion, 6 patients with multimorbidities and polymedications and 6 patients complained of fatigue as the main symptom before inclusion in the study. The median follow-up is 6 (6-14) months. Conclusions: The acceptance of the project in the medical community has been excellent with a good inclusion page. At the end of the one year follow-up period we will be available to analyze the influence of Eliglustat on biomarkers, markers of inflammation, bone mineral density also to provide information about adherence and adverse events in every day clinical practice.This work has been partially granted by FEETEG DisclosuresNo relevant conflicts of interest to declare.

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

BackgroundGaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and substrate reduction therapy represents an alternative oral treatment. Here is a rare case report of Gaucher disease in South China.Case presentationOur patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti-infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it.ConclusionA rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.

Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease

Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme β-glucocerebrosidase, resulting in accumulation of glucocerebroside in ti...

Changes of the peripheral blood mononuclear cells membrane fluidity from type 1 Gaucher disease patients: an electron paramagnetic resonance study.

Gaucher disease (GD) is a lysosomal storage disorder, caused by an impaired function of β-glucocerebrosidase, which results in accumulation of glucocerebroside in cells, and altered membrane ordering. Using electron paramagnetic resonance spin labeling, a statistically significant difference in the order parameter between the peripheral blood mononuclear cell membranes of GD patients and healthy controls was observed. Moreover, the results show that the introduction of the enzyme replacement therapy leads to the restoration of the physiological membrane fluidity. Accordingly, this simple method could serve as a preliminary test for GD diagnosis and therapy efficiency.

Successful newborn screening for Gaucher disease using fluorometric assay in China.

Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte–macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining the true incidence of this rare disease is critical for relevant policy establishment. Newborn screening allows for early diagnosis and an comparatively accurate incidence of GD. A fluorometric method to detect acid β-glucocerebrosidase (GBA) activity on a dried blood spot punch was developed. Validity and feasibility of the fluorometric method was demonstrated by examining 116 healthy controls, 19 confirmed GD patients and 19 obligate carriers. GBA activity was measured on dried blood spots of 80 855 newborns. Samples from positively screened newborns were reanalyzed by a leukocyte GBA activity test and GBA gene analysis. Plasma glucosylsphingosine level was determined as a biomarker of the pathophysiology of GD. GD patients were distinguished from healthy controls and obligate carriers using the fluorometric method. Mean GBA activity in newborn screening specimens was 145.69±44.76 μmol l−1 h−1 (n=80 844). Three children had low GBA activity, of which one child had low GBA activity on the second dried blood spot specimen. Leukocyte, genetic and biomarker analysis confirmed the diagnosis and indicated that this child was in the early stages of GD. In conclusion, the incidence of GD in Shanghai of China is approximately 1 in 80 855. Screening for GD by fluorometric analysis of GBA activity is an efficient and feasible technology in newborns.