Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Ruijter, Jessica de; Ru, Minke H. de; Wagemans, Tom; IJlst, Lodewijk; Lund, Allan M.; Orchard, Paul J.; Schaefer, Gerald; Wijburg, Frits A.; Vlies, Naomi van

doi:10.1016/j.ymgme.2012.09.024

Cited by 102 publications

(93 citation statements)

References 37 publications

(35 reference statements)

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“…Two of the biochemical methods used for secondtier tests (Krabbe disease: psychosine concentration, MPS I: dermatan sulfate and heparan sulfate concentrations) have been described previously. 21,22 A second-tier test for the evaluation of low GAA activity was developed during this study and has been described separately. 23 It is based on a 12-plex panel inclusive of creatine and creatinine, utilized to calculate the (creatine/creatinine)/GAA ratio that is incorporated in expanded CLIR tools.…”

Section: Study Population and Analytical Methodsmentioning

confidence: 99%

Precision newborn screening for lysosomal disorders

Baerg

Stoway

Hart

et al. 2018

Genetics in Medicine

104

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Section: Study Population and Analytical Methodsmentioning

confidence: 99%

Precision newborn screening for lysosomal disorders

Baerg

Stoway

Hart

et al. 2018

Genetics in Medicine

104

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“…The patients in this study carried 14 different mutations in the SGSH gene, which included all but 1 previously reported as pathogenic 11, 22, 23, 24. The c.820A>G (p.N274D) mutation found in Patient 53 (see Table 2) was not previously reported but was predicted to be pathogenic by SIFT, Mutation Taster, and Polyphen‐2 prediction software.…”

Section: Resultsmentioning

confidence: 87%

“…Early diagnosis will thus be essential and can only be achieved by increasing awareness for MPS III and, probably best, by NBS. Earlier studies showed that NBS for MPS IIIA is feasible, for example, by measuring HS concentrations or lysosomal protein concentrations in dried blood spots 22, 31, 32. Early diagnosis, especially through NBS, will make reliable assessment of the phenotype crucial, either by genotyping or, if that is inconclusive, by other methods such as the method reported here.…”

Section: Discussionmentioning

confidence: 88%

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

Knottnerus

Nijmeijer

IJlst

et al. 2017

Annals of Neurology

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ObjectiveMucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype–phenotype correlations are currently unknown, are frequently reported, hampering early prediction of phenotypic severity and efficacy assessment of new disease‐modifying treatments. We aimed to design a method to determine phenotypic severity early in the disease course.MethodsFifty‐three patients were included for whom skin fibroblasts and data on disease course and mutation analysis were available. Patients were phenotypically characterized on clinical data as rapidly progressing or slowly progressing. Sulfamidase activity was measured in fibroblasts cultured at 37 °C and at 30 °C.ResultsSulfamidase activity in fibroblasts from patients homozygous or compound heterozygous for a combination of known severe mutations remained below the limit of quantification under both culture conditions. In contrast, sulfamidase activity in fibroblasts from patients homozygous or compound heterozygous for a known mild mutation increased above the limit of quantification when cultured at 30 °C. With division on the basis of the patients' phenotype, fibroblasts from slowly progressing patients could be separated from rapidly progressing patients by increase in sulfamidase activity when cultured at 30 °C (p < 0.001, sensitivity = 96%, specificity = 93%).InterpretationPhenotypic severity strongly correlates with the potential to increase sulfamidase activity in fibroblasts cultured at 30 °C, allowing reliable distinction between patients with rapidly progressing or slowly progressing phenotypes. This method may provide an essential tool for assessment of treatment effects and for health care and life planning decisions. Ann Neurol 2017;82:686–696

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“…Now that psychosine levels can be determined, this can greatly enhance the diagnosis of infantile Krabbe disease. There is a need for a similar biomarker to aid in the diagnosis of Pompe disease, and there are reports of biomarkers that can be used in the diagnosis of other LSDs [47][48][49]. There is also a need for more quantitative diagnostic tests and standardized methods for clinical evaluations and follow up.…”

Section: Diagnostic Evaluationsmentioning

confidence: 99%

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

Orsini

Casini

2017

IJNS

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Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. An additional forty-six asymptomatic infants were found to be at moderate or high risk for disease. Screening for KD is both analytically and medically challenging; since screening for KD possesses both of these challenges, and many more, the lessons learned thus far could be used to predict the challenges that may be faced when screening for other lysosomal storage disorders (LSDs). This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands.

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Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Cited by 102 publications

References 37 publications

Precision newborn screening for lysosomal disorders

Precision newborn screening for lysosomal disorders

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

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