Articles tagged with Lysosomal Storage Disorders (LSD)
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Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping
Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. In addition, these well-established tools are increasingly being utilized in research settings. A recent example involved the Fabry Disease (FD)-specific biomarker Lyso-Gb3.…
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Rapid Intravenous Enzyme Infusion
In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from University Rostock, Israel and Australia, we tested effects of rapid intravenous…
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Niemann-Pick Type C Disease Often Overlooked: Fast & Efficient Screening Programs
Discover how CENTOGENE’s fast and efficient screening program for NP-C can enable diagnosis, prediction and therapy monitoring for your patients.
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Lysosomal Storage Diseases (LSD) Panel
Lysosomal storage diseases (LSD) are a heterogeneous group of inherited disorders characterized by the accumulation of partially digested or undigested macromolecules in cells, due to the absence of different lysosomal enzymes, which ultimately results in cellular dysfunction and clinical…
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Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update.
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis,…
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Glucosylsphingosine Is a Reliable Response Biomarker
Perusing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a reliable responsible biomarker for this disease.
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Sandhoff Disease
Sandhoff disease is a rare inherited lysosomal storage disorder caused by an accumulation of the specific glycosphinogolipid, GM2 ganglioside1, particularly in neurons. This accumulation results in a progressive neurodegenerative disorder clinically indistinguishable from Tay-Sachs disease. Because…
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Krabbe Disease
Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems.
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Mucopolysaccharidosis Type 2 (MPS II)
Mucopolysaccharidosis type II (also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation and caused by lack of the enzyme iduronate sulfatase, encoded by the IDS gene.
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Mucopolysaccharidosis Type ICH (MPS1-H)
MPS I has been divided into three broad groups based on severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively; and the Hurler-Scheie syndrome is intermediate in…
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Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome A, is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate.
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In Vitro Enzyme Measurement
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2…
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GLB1-Related Disorders
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. GM1 gangliosidosis, also known as GLB1 deficiency, is estimated to occur in…
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Niemann-Pick Disease, Type C
Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type C is due to variants in one of two different genes, NPC1 and NPC2. It is characterized by progressive neurodegeneration with an estimated…
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Biomarkers for Lysosomal Storage Disorders
Interested in the latest innovations in metabolic disease diagnostics and assessing the effects of therapy? Do you want to learn more about biochemical genetic testing at CENTOGENE? Join this webinar to learn more about novel biomarkers for lysosomal storage disorders (LSDs).
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Fabry Disease
Fabry disease is a lysosomal storage disorder which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms (e.g. only pain or cerebrovascular disorders) or with multiple symptoms which…
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Glucosylsphingosine Causes Hematological and Visceral Changes in Mice
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a…
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Lyso-SM-509 Is a Highly Specific and Sensitive Biomarker for the Identification of Niemann-Pick Patients: a 30 Months Study
We present data from a 2 year global cohort of Niemann Pick patients using lyso-SM-509 biomarker determination, followed by sequencing of NPC1/2 genes. Determination of lyso-SM-509 is performed by LC/MRM-MS in plasma, serum, EDTA blood anddried blood spots (DBS). We identified in a world-wide study…
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C26Cer Is a Highly Sensitive Screening Biomarker for Farber Disease Based on Dry Blood Test (DBS)
The new biomarker can be determined directly in the dried blood spot (DBS) extract with low sample consumption, easy sample preparation, high reproducibility and it presents the possibility of being used in high throughput screenings.
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Biochemical and Genetic Data from the Largest Global Fabry Cohort Reported to Present
Fabry disease is an X-linked inherited lysosomal storage disease characterized by a deficient alpha-galactosidase caused by mutations in GLA gene. We present here the data collected over a period of over10 years regarding in vitro Fabry diagnosis.
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CentoMD®: Genetic Variants-Related Biomarker Knowledge Database
CentoMD® is a browser-based tool that enables access to a high-quality repository of genetic, biochemical and human phenotype ontology (HPO)-based clinical information. All patients provided informed consent before inclusion in the DB.
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BioMannosidosis – Biomarker for Alpha-Mannosidosis Disease
Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an…
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Reductions in Glucosylsphingosine
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been…
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Fluorescent Probes for Selective Protein Labeling in Lysosomes: A Case of α-Galactosidase A
This study demonstrated fluorescent probes for selective protein labeling in lysosomes in a case of α-galactosidase A, contributing further to the knowledge about diagnostics and pathology of Fabry disease. The newly investigated fluorescence-based live-cell-imaging technology of specifically tagged…
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C26-Ceramide as Highly Sensitive Biomarker for the Diagnosis of Farber Disease
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and…
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Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1
Niemann–Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive…
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Mucopolysaccharidoses
Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…
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Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA…
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The Hidden Niemann-Pick Type C Patient
Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to…
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Niemann–Pick Type C in Early-Onset Ataxia
Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents a promising target group for undiagnosed NP-C patients.
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Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C
Niemann–Pick disease type C (MIM 607625; NP-C) is an autosomal recessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for more than 95% of cases) or NPC2 [Park et al., 2003]. Here we report the first…
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BioFabry – Biomarker for Fabry Disease
Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease character-ized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cere-brovascular manifestations. Annual incidence is reported to be 1 in 80,000 live births but this figure may…
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Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6- sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6- sulfate in tissues and secondary organ…
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A Novel, Highly Sensitive and Specific Biomarker for Niemann-Pick Type C1 Disease
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.
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LYSO-PROVE – Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Gaucher disease is the most common sphingolipidosis and it is…
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BioWolman – Biomarker for Wolman Disease
Wolman disease is a rare genetic disorder characterized by the complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) lipids in the body. Without the LIPA enzyme, lipids may abnormally accumulate in the tissues and organs of the…
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BioHurler – Biomarker for Hurler Disease
The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment.
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BioFarber – Biomarker for Farber Disease
Farber disease, also known as Farber’s lipogranulomatosis, is an autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase which causes a progressive accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues, and central…
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Continuous Cardiac Troponin I Release in Fabry Disease
Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.
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Relative Acidic Compartment Volume as a Biomarker
In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients derived from multiple independent clinical cohorts to ensure statistical power.
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Plasma Glucosylsphingosine: A Specific and Sensitive Biomarker for the Primary Diagnostic and Follow-Up in Patients with Gaucher Disease
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.
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Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease
Our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease.
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Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease
Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before…
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Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29…
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Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, confluent white matter lesions on MRI, normal spinal MR imaging, ectatic vertebrobasilar arteries,…
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Functional Characterisation of Alpha-Galactosidase
In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) 1-deoxygalactonojirimycin (DGJ) as a tool to analyse the influence of individual mutations on subcellular…
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Clinical, Genetic, and Brain Sonographic Features Related to Parkinson’s Disease in Gaucher Disease
Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. We conclude that the combined clinical, genetic, and transcranial sonographic assessment may improve the PD risk evaluation in Gaucher disease.
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Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We…
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Newborn Screening for Lysosomal Storage Disorders in Hungary
Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in…
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BioMorquio – Biomarker for Morquio Disease
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment. Examining…
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BioMaroteaux-Lamy – Biomarker for Maroteaux-Lamy Disease
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with…
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BioKrabbe – Biomarker for Krabbe Disease
The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.
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BioGaucher – Biomarker for Gaucher Disease
The goal of the study is to validate this new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
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BioHunt – Biomarker for Hunter Disease
The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
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Respiratory Disease in Niemann-Pick Type C2 Is Caused by Pulmonary Alveolar Proteinosis
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels…