Metabolism
Metabolic diseases can have severe consequences unless diagnosed and treated as soon as possible. Genetic testing permits the earliest possible detection and treatment of affected individuals, even in newborns, and can prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders.
Articles on Metabolism
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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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Confirmation of ACER3-Related Recessive Neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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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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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.