Newborn screening for Pompe disease with dried blood spots in a Japanese region: a pilot study

2014 ◽  
Vol 111 (2) ◽  
pp. S79
Author(s):  
Ken Momosaki ◽  
Shirou Matsumoto ◽  
Kimitoshi Nakamura ◽  
Hiroshi Mitsubuchi ◽  
Toshika Okumiya ◽  
...  
Keyword(s):  
Pilot Study ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

2020 ◽  
Vol 216 ◽  
pp. 204-207 ◽  
Author(s):  
Clifford Ronald Scott ◽  
Susan Elliott ◽  
Xinying Hong ◽  
Jie-Yu Huang ◽  
Arun Babu Kumar ◽  
...  
Keyword(s):  
Pilot Study ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Determination of Acid α-Glucosidase Activity in Blood Spots as a Diagnostic Test for Pompe Disease

2001 ◽  
Vol 47 (8) ◽  
pp. 1378-1383 ◽  
Author(s):  
Kandiah Umapathysivam ◽  
John J Hopwood ◽  
Peter J Meikle
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Dried Blood Spots ◽  
Cultured Fibroblasts ◽  
Virtual Absence ◽  
Screening Programs ◽  
Blood Spots ◽  
Enzyme Replacement ◽  
Glucosidase Activity

Abstract Background: Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the lysosomal acid α-glucosidase. Enzyme replacement therapy for the infantile and juvenile forms of Pompe disease currently is undergoing clinical trials. Early diagnosis before the onset of irreversible pathology is thought to be critical for maximum efficacy of current and proposed therapies. In the absence of a family history, the presymptomatic detection of these disorders ideally can be achieved through a newborn-screening program. Currently, the clinical diagnosis of Pompe disease is confirmed by the virtual absence, in infantile onset, or a marked reduction, in juvenile and adult onset, of acid α-glucosidase activity in muscle biopsies and cultured fibroblasts. These assays are invasive and not suited to large-scale screening. Methods: A sensitive immune-capture enzyme activity assay for the measurement of acid α-glucosidase protein was developed and used to determine the activity of this enzyme in dried-blood spots from newborn and adult controls, Pompe-affected individuals, and obligate heterozygotes. Results: Pompe-affected individuals showed an almost total absence of acid α-glucosidase activity in blood spots. The assay showed a sensitivity and specificity of 100% for the identification of Pompe-affected individuals. Conclusions: The determination of acid α-glucosidase activity in dried-blood spots is a useful, noninvasive diagnostic assay for the identification of Pompe disease. With further validation, this procedure could be adapted for use with blood spots collected in newborn-screening programs.

scholarly journals A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Igor Ribeiro Ferreira ◽  
Régis Afonso Costa ◽  
Leonardo Henrique Ferreira Gomes ◽  
Wilton Darleans dos Santos Cunha ◽  
Latife Salomão Tyszler ◽  
...  
Keyword(s):  
Pilot Study ◽  
High Resolution ◽  
Newborn Screening ◽  
High Resolution Melting ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

2021 ◽  
Vol 26 ◽  
pp. 100720
Author(s):  
Archana Natarajan ◽  
Rita Christopher ◽  
Shruti V. Palakuzhiyil ◽  
Sadanandavalli Retnaswami Chandra
Keyword(s):  
Newborn Screening ◽  
Dried Blood Spots ◽  
Fatty Acyl ◽  
Blood Spots ◽  
Long Chain

scholarly journals Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

2017 ◽  
Vol 63 (7) ◽  
pp. 1271-1277 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Min-Ju Chan ◽  
Chia-Feng Yang ◽  
Chuan-Chi Chiang ◽  
Dau-Ming Niu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Asian Population ◽  
Dried Blood Spots ◽  
Fluorimetric Assay ◽  
Analytical Range ◽  
Patient Referrals

Abstract BACKGROUND Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. The assay displayed a relatively large analytical range compared to the fluorimetric assay with 4-methylumbelliferyl-α-glucoside. DBS from newborns confirmed to have infantile-onset Pompe disease (IOPD, n = 11) or late-onset Pompe disease (LOPD) (n = 12) and those from patients bearing pseudodeficiency alleles with or without Pompe mutations, or Pompe disease carriers (n = 230) were studied. RESULTS With use of the MS/MS GAA assay in DBS, 96% of the pseudodeficiency newborns and all of the Pompe disease carriers were well separated from the IOPD and LOPD newborns. The fluorimetric assay separated <10% of the pseudodeficiencies from the IOPD/LOPD group. CONCLUSIONS The relatively large analytical range MS/MS GAA assay but not the fluorimetric assay in DBS provides a robust approach to reduce the number of referrals and should dramatically facilitate newborn screening of Pompe disease.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

2013 ◽  
Vol 419 ◽  
pp. 73-76 ◽  
Author(s):  
Wei-Lien Chuang ◽  
Josh Pacheco ◽  
X. Kate Zhang ◽  
Monica M. Martin ◽  
Chad K. Biski ◽  
...  
Keyword(s):  
At Risk ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Krabbe Disease ◽  
Blood Spots

scholarly journals Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

2008 ◽  
Vol 54 (3) ◽  
pp. 542-549 ◽  
Author(s):  
Devin Oglesbee ◽  
Karen A Sanders ◽  
Jean M Lacey ◽  
Mark J Magera ◽  
Bruno Casetta ◽  
...  
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Branched Chain Amino Acids ◽  
Maple Syrup ◽  
Blood Spots ◽  
Urine Disease ◽  
Second Tier ◽  
Branched Chain ◽  
Positive Results

Abstract Background: Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS). d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD, but it cannot be identified by existing screening methods because it is not differentiated from isobaric amino acids. Furthermore, newborns receiving total parenteral nutrition often have increased concentrations of BCAAs. To improve the specificity of newborn screening for MSUD and to reduce the number of diet-related false-positive results, we developed a LC-MS/MS method for quantifying allo-Ile. Methods: Allo-Ile and other BCAAs were extracted from a 3/16-inch dried blood spot punch with methanol/H2O, dried under nitrogen, and reconstituted into mobile phase. Quantitative LC-MS/MS analysis of allo-Ile, its isomers, and isotopically labeled internal standards was achieved within 15 min. To determine a reference interval for BCAAs including allo-Ile, we analyzed 541 dried blood spots. We also measured allo-Ile in blinded samples from 16 MSUD patients and 21 controls and compared results to an HPLC method. Results: Intra- and interassay imprecision (mean CVs) for allo-Ile, leucine, isoleucine, and valine ranged from 1.8% to 7.4%, and recovery ranged from 91% to 129%. All 16 MSUD patients were correctly identified. Conclusions: The LC-MS/MS method can reliably measure allo-Ile in dried blood spots for the diagnosis of MSUD. Applied to newborn screening as a second-tier test, it will reduce false-positive results, which produce family anxiety and increase follow-up costs. The assay also appears suitable for use in monitoring treatment of MSUD patients.

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