Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis

Kumar, Arun; Hong, Xinying; Wood, Tim; Gelb, Michael H.

doi:10.1016/j.ymgme.2019.05.016

Cited by 13 publications

(12 citation statements)

References 26 publications

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“…Additionally, screening studies of MPS and other disease types in other countries have been done to improve the efficiency of NBS. The multiplex of MS/MS assays was performed for MPS II, MPS IIIB, MPS IVA, MPS VI, MPS VII, and fucosidosis [ 182 ].…”

Section: Frequency Of Mps With Newborn Screeningmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have various health problems, affecting their quality of life and life-span. Two therapeutic options for MPS are widely used in practice: enzyme replacement therapy and hematopoietic stem cell transplantation. However, early diagnosis of MPS is crucial, as treatment may be too late to reverse or ameliorate the disease progress. It has been noted that the prevalence of MPS and each subtype varies based on geographic regions and/or ethnic background. Each type of MPS is caused by a wide range of the mutational spectrum, mainly missense mutations. Some mutations were derived from the common founder effect. In the previous study, Khan et al. 2018 have reported the epidemiology of MPS from 22 countries and 16 regions. In this study, we aimed to update the prevalence of MPS across the world. We have collected and investigated 189 publications related to the prevalence of MPS via PubMed as of December 2020. In total, data from 33 countries and 23 regions were compiled and analyzed. Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia. The newborn screening is an efficient and early diagnosis for MPS. MPS I has been approved for newborn screening in the United States. After the newborn screening of MPS I, the frequency of MPS I increased, compared with the past incidence rates. Overall, we conclude that the current identification methods are not enough to recognize all MPS patients, leading to an inaccurate incidence and status. Differences in ethnic background and/or founder effects impact on the frequency of MPS, which affects the prevalence of MPS. Two-tier newborn screening has accelerated early recognition of MPS I, providing an accurate incidence of patients.

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Section: Frequency Of Mps With Newborn Screeningmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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“…Development of methods for simultaneous detection of multiple enzyme activities in dried blood spots suitable for newborn screening programs for several LSDs (Anderson, 2018; Donati et al , 2018; Kumar et al , 2019; Lukacs et al , 2019; Scott et al , 2020)…”

Section: Introductionmentioning

confidence: 99%

“…Other approaches followed, such as a multiplex immune‐quantification assay of lysosomal enzymes (Meikle et al , 2006), enzyme assays by DMF‐F, and tandem mass spectrometry (Gelb et al , 2019). Methods to test lysosomal enzyme activities in dried blood spots suitable for newborn screening programs have been developed for Fabry disease, Gaucher disease, Krabbe disease, Niemann‐Pick A/B, Pompe disease, and mucopolysaccharidoses, and for less prevalent disorders such as alpha‐mannosidosis, alpha‐fucosidosis, lysosomal acid lipase deficiency, and ceroid lipofuscinosis 1 and ceroid lipofuscinosis 2 (Anderson, 2018; Donati et al , 2018; Kumar et al , 2019; Lukacs et al , 2019; Scott et al , 2020). In most instances, these methods allow for simultaneous detection of multiple LSDs (Kumar et al , 2019; Lukacs et al , 2019; Hong et al , 2020).…”

Section: Introductionmentioning

confidence: 99%

The rapidly evolving view of lysosomal storage diseases

2021

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Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures. The understanding of lysosomal biology has progressively improved over time. Lysosomes are no longer viewed as organelles exclusively involved in catabolic pathways, but rather as highly dynamic elements of the autophagic‐lysosomal pathway, involved in multiple cellular functions, including signaling, and able to adapt to environmental stimuli. This refined vision of lysosomes has substantially impacted on our understanding of the pathophysiology of lysosomal disorders. It is now clear that substrate accumulation triggers complex pathogenetic cascades that are responsible for disease pathology, such as aberrant vesicle trafficking, impairment of autophagy, dysregulation of signaling pathways, abnormalities of calcium homeostasis, and mitochondrial dysfunction. Novel technologies, in most cases based on high‐throughput approaches, have significantly contributed to the characterization of lysosomal biology or lysosomal dysfunction and have the potential to facilitate diagnostic processes, and to enable the identification of new therapeutic targets.

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“…The current major methodologies employed for the screening of MPS are the quantification of the lysosomal enzymes by digital microfluidics (DMF) with currently available assays for MPS I a nd II, although this platform is limited by the number of enzymes that can be multiplexed in a single assay [132][133][134]. On the other hand, tandem mass spectrometry has been widely used for the NBS of MPS I and now it is available for the screening of MPS II, IIIB, IVA, VI, and VII [135].…”

mentioning

confidence: 99%

Diagnosis of Mucopolysaccharidoses

et al. 2020

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The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as leukocytes) providing a final diagnosis, while others (such as dried blood spots) still being considered as screening methods. The identification of variants in the specific genes that encode each MPS-related enzyme is helpful for diagnosis confirmation (when needed), carrier detection, genetic counseling, prenatal diagnosis (preferably in combination with enzyme assays) and phenotype prediction. Although the usual diagnostic flow in high-risk patients starts with the measurement of urinary GAGs, it continues with specific enzyme assays and is completed with mutation identification; there is a growing trend to have genotype-based investigations performed at the beginning of the investigation. In such cases, confirmation of pathogenicity of the variants identified should be confirmed by measurement of enzyme activity and/or identification and/or quantification of GAG species. As there is a growing number of countries performing newborn screening for MPS diseases, the investigation of a low enzyme activity by the measurement of GAG species concentration and identification of gene mutations in the same DBS sample is recommended before the suspicion of MPS is taken to the family. With specific therapies already available for most MPS patients, and with clinical trials in progress for many conditions, the specific diagnosis of MPS as early as possible is becoming increasingly necessary. In this review, we describe traditional and the most up to date diagnostic methods for mucopolysaccharidoses.

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Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis

Cited by 13 publications

References 26 publications

Epidemiology of Mucopolysaccharidoses Update

Epidemiology of Mucopolysaccharidoses Update

The rapidly evolving view of lysosomal storage diseases

Diagnosis of Mucopolysaccharidoses

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