Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Gelb, Michael H.; Tureček, František; Scott, Camilla; Chamoles, N.

doi:10.1007/s10545-006-0265-4

Cited by 185 publications

(148 citation statements)

References 24 publications

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“…Assays for lysosomal enzyme activity, including I2S activity, in dried blood spots that may be suitable for newborn screening have been developed (Gelb et al 2006;Wolfe et al 2011;Sista et al 2011). A pilot population-based newborn screening using any of these methods has not yet been reported.…”

Section: Discussionmentioning

confidence: 99%

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

et al. 2012

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Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believed, for inborn errors of metabolism in general, that early diagnosis and management is of paramount importance for improving the prognosis of the disease. The objective of this study was to identify specific populations at risk of suffering from Hunter syndrome. Urine samples were obtained from children between the ages of 0 to 18, belonging to known risk groups of mucopolysaccharidosis (MPS) type II, for the semiquantitative (GAG test) and quantitative determination of glycosaminoglycans (GAG). One case of Hunter syndrome was found among the 130 samples that were collected and analysed. This study supports the feasibility of early diagnosis and the usefulness of screening tests for MPS II in specific paediatric populations.

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Section: Discussionmentioning

confidence: 99%

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

et al. 2012

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“…25 The activity of another alpha-glucosidase, maltase-glucoamylase, may lead to false negative test results in cases of PD if not inhibited by acarbose. 26 Addition of acarbose is now standard for all blood-based GAA assays including the ones carried out in DBS.…”

Section: 23mentioning

confidence: 99%

“…26 Measuring GAA activity in DBS using MS/MS is a fast and cost-effective way of diagnosing PD and allows multiplexing with additional lysosomal storage disorders for high throughput screening of newborn infants or at risk individuals. 10,25,27,28 The challenges of this approach are the higher initial investment cost for instrumentation and the longer overall analytical time from sample receipt to report of 48 hours compared with less than 24 hours for fluorometric assays. 24,26 The MS/MS method has so far to the best of our knowledge only be validated for enzyme analysis in DBS, but not in other biological matrices.…”

Section: 23mentioning

confidence: 99%

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The Diagnostic Path to Pompe Disease

Bodamer¹,

Hung²

2014

European Neurological Review

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Pompe disease (PD) is a lysosomal disease that primarily affects skeletal and smooth muscles due to a deficiency of acid alpha glucosidase.The resulting clinical phenotype reflects a continuum ranging from severe infantile to later onset forms of PD. Early diagnosis is essential to prevent long-term complications and/or disease progression through initiation of enzyme-replacement therapy. The diagnostic path to PD starts with the ascertainment of medical and family history as well as an in-depth clinical and neurological evaluation. The involvement of proximal muscle groups including hip and thigh muscles as well as the diaphragm is characteristic for later onset PD.Once PD is considered creatine kinase (CK) should be measured, realising that levels may be within normal limits in end stage disease.Ultimately, diagnostic confirmation is readily achieved by enzyme analysis in dried blood spots and/or leukocytes followed by molecular analysis. Muscle biopsy is not sensitive enough for diagnostic testing of PD but may be an important diagnostic test for the differential diagnosis of myopathies. Future diagnostic approaches include whole exome and genome sequencing, which may contribute to our understanding of genotype-phenotype correlation and phenotype prediction. KeywordsPompe disease, alpha glucosidase, glycogen storage disease II, diagnosis, laboratory testing, dried blood spot Disclosure: Olaf A Bodamer is a member of Genzyme speaker's bureau and has also received research funding. Christina Y Hung has no conflicts of interest to declare.

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“…One of these is based on an immunoassay to quantify the enzyme in terms of protein mass, taking into account that not only the enzymatic activity but also the number of enzyme molecules are reduced in Fabry disease (91). The detection of lysosomal enzyme activities in dried blood spots could also be multiplexed by using tandem mass spectrometry to detect the enzymatically generated product (92).…”

Section: Prenatal and Newborn Screeningmentioning

confidence: 99%

Fabry Disease: Treatment and diagnosis

Rozenfeld

2009

IUBMB Life

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SummaryFabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme a-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.

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Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Cited by 185 publications

References 24 publications

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

The Diagnostic Path to Pompe Disease

Fabry Disease: Treatment and diagnosis

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