scholarly journals Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1583
Author(s):  
Chih-Kuang Chuang ◽  
Chung-Lin Lee ◽  
Ru-Yi Tu ◽  
Yun-Ting Lo ◽  
Fran Sisca ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Gold Standard ◽  
Screening Program ◽  
Lysosomal Storage Diseases ◽  
Current Status ◽  
Type I ◽  
Lysosomal Storage ◽  
Laboratory Findings ◽  
Mps Iva ◽  
Timely Fashion

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs have been implemented in Taiwan since 2015, and more than 48.5% of confirmed cases of MPS have since been referred from these NBS programs. The purpose of this study was to report the current status of NBS for MPSs in Taiwan and update the gold standard criteria required to make a confirmative diagnosis of MPS, which requires the presence of the following three laboratory findings: (1) elevation of individual urinary glycosaminoglycan (GAG)-derived disaccharides detected by MS/MS-based assay; (2) deficient activity of a particular leukocyte enzyme by fluorometric assay; and (3) verification of heterogeneous or homogeneous variants by Sanger sequencing or next generation sequencing. Up to 30 April 2021, 599,962 newborn babies have been screened through the NBS programs for MPS type I, II, VI, and IVA, and a total of 255 infants have been referred to MacKay Memorial Hospital for a confirmatory diagnosis. Of these infants, four cases were confirmed to have MPS I, nine cases MPS II, and three cases MPS IVA, with prevalence rates of 0.67, 2.92, and 4.13 per 100,000 live births, respectively. Intensive long-term regular physical and laboratory examinations for asymptomatic infants with confirmed MPS or with highly suspected MPS can enhance the ability to administer ERT in a timely fashion.

scholarly journals The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

2018 ◽  
Vol 21 (3) ◽  
pp. 631-640 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Michele Caggana ◽  
Sean M. Bailey ◽  
Robert J. Desnick ◽  
Lisa Edelmann ◽  
...  
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Screening Program ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Newborn Screening Program ◽  
Storage Diseases

scholarly journals Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

2019 ◽  
Vol 5 (2) ◽  
pp. 24 ◽  
Author(s):  
Alberto B. Burlina ◽  
Giulia Polo ◽  
Laura Rubert ◽  
Daniela Gueraldi ◽  
Chiara Cazzorla ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Lysosomal Storage Diseases ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Lysosomal Disorders ◽  
North Eastern ◽  
Second Tier

The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders—mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases—using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.

scholarly journals Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences

2020 ◽  
Vol 6 (2) ◽  
pp. 35 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Kshea Hale ◽  
Sikha Singh ◽  
Marci K. Sontag ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Survival Curve ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program ◽  
Mps I ◽  
Insight Into

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

A middle-age woman with subcutaneous plaque and hilar adenopathies

Open Medicine ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. 480-482
Author(s):  
Husein Husein-ElAhmed ◽  
Jose-Luis Callejas-Rubio ◽  
Norberto Ortego-Centeno
Keyword(s):  
Subcutaneous Fat ◽  
Rare Condition ◽  
Spontaneous Remission ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Chronic Infections ◽  
Rare Presentation ◽  
Laboratory Findings ◽  
First Line Therapy ◽  
Oral Steroids

AbstractSubcutaneous sarcoidosis (SS) is an unusual and specific subtype of nodular sarcoidosis 1. The presence of SS with no elements of systemic manifestations is a rare condition: it is reported only in 1.4% to 6% of patients with systemic sarcoidosis, with the trunk being the most predilected area. Such cases with rare presentation are challenging for physicians because it can mimic several chronic infections, amyloidosis, hypothyroidism, lysosomal storage diseases and other conditions. Typical imaging (specially bilateral hilar adenopathies), histological exam and laboratory findings are the baseline to establish the diagnosis of sarcoidosis. In our case, the presence of subcutaneous manifestations avoided the performance of invasive procedures to get confirmation from other target organs: The epithelioid cells granulommas in subcutaneous fat and the representative radiological images were enough features to make the certain diagnosis. The first-line therapy for SS is oral steroids (20–40 mgr/day) with responses observed only 4–8 weeks after initiation of the treatment2. Prognosis of SS is good with spontaneous remission in some cases; however, when granulommas or fibrosis involves vital organs sarcoidosis can be life-threatening. Physicians should consider diagnosis of SS in patients with clinical suspicious history as sometimes skin manifestations are the first sign of systemic presentation of disease

Lysosomal Newborn Screening in a Cohort in Mexican Population-

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5581-5581
Author(s):  
Juana Ines Navarrete
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Fabry Disease ◽  
Pompe Disease ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Inborn Errors ◽  
Storage Diseases

Abstract INTRODUCTION: The goal of newborn screening is an early detection of inborn erros of metabolism diseases. In Mexico we began newborn screening since 1977 with very few inborn errors of metabolism such as phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia and cytic fibrosis (1). Since that date we have been increasing our newborn screening our newborn screening slowly and now a days we screen in most states of the country 15 inborn errors of metabolism(2). In 2012 we started with some patients through out the country a wider neonatal screening that include 5 lysosomal storage diseases. MATERIAL AND METHODS: Petróleos Mexicanos is a big governmental institution with approximately 10,000 workers and their families. Since 2005 a larger newborn screening has been done to all newborns in this institution through all the country. We test for most aminoacidopathies, including acidurias, hemoglobinopathies, G6PD deficiency, adrenal hyperplasia, cystic fibrosis and biotinidase deficiency; since August 2012 we included 6 lysosomal storage diseases; Gaucher disease, Fabry disease, Hurler disease, Pompe disease, Niemann-Pick type A and B disease and Krabbe disease. RESULTS: Up to date we have screened 10,853 newborns, we have found 9 patients with lysosomal storage diseases. We found 4 newborns with mutations for Fabry disease, 4 newborns with Pompe disease, three were pseudodeficiencies and one was combined heterozygous for a late onset presentation and pseudodeficiencies and 1 patient with Hurler disease (Table 2). We present here our clinical correlation between genotype-phenotype in these patients. We found a frequency in our population of 1 in 2713 newborns for both Fabry and Pompe disease. DISCUSSION: Newborn screening is a major public health achievement that has improve the morbidity and mortality of inborn errors of metabolism. The introduction of newborn screening for lysosomal storage diseases presents new challenges. This is the first latinamerican study of early detection of lysosomal storage diseases made by neonatal screening there are about 11 similar international studies. It is important point out that the most common lysosomal storage disease found in our study was Pompe diseases the pseudodeficiency type and Fabry disease type II with a frequency of 1 in 2713 newborns for both diseases. Spada et al; and Hwu et al; have reported frequencies of 1 in 1250 to 3100 male newborns. The mutation most commonly found was c.1088G>A, (p.R363H) for Fabry disease and c.1726G>A(p.G576S) for Pompe disease. References: 1. Nakamura K, Am J Med Genet Part C, 2011; 157, 63-71. 2. Zhou et al, J. Pediatr 2011 159 1 7-13. 3. Alterescu GM, Clin. Genet 2001:60:46-51. 2001. 4. Desnick R. J.: Enzyme Replacement Therapy and Enhancement therapies for Lysosomal Storage Diseases. J. Inher Metab Dis 2004; 27:385-4013. Disclosures No relevant conflicts of interest to declare.

scholarly journals REDUCED DOSING REGIMEN OF ENZYME REPLACEMENT THERAPY IN ADULT PATIENTS WITH TYPE I GAUCHER DISEASE: PRELIMINARY RESULTS

2019 ◽  
Vol 64 (3) ◽  
pp. 331-341 ◽  
Author(s):  
R. V. Ponomarev ◽  
K. A. Lukina ◽  
E. P. Sysoeva ◽  
R. B. Chavynchak ◽  
A. A. Solovyeva ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Lysosomal Storage Diseases ◽  
Adult Patients ◽  
Type I ◽  
Treatment Goals ◽  
Lysosomal Storage ◽  
Current Standard ◽  
Enzyme Replacement

Introduction. Gaucher disease (GD) belongs to the group of lysosomal storage diseases. Enzyme replacement therapy (ERT) is considered to be the current standard in GD treatment. No reduced ERT regimen has thus far been developed. Aim. To develop an optimal reduced ERT regimen for adult patients with type I GD, which is scientifically and economically viable.Materials and methods. The study included 100 adult patients with type I GD who achieved treatment goals following at least two years of the standard ERT regimen. Patients were prescribed a reduced ERT regimen, which consisted in increasing the interval between the infusions of the recombinant enzyme up to 4 weeks, at a dose of 15–20 units/kg of body weight. The efficacy of the reduced ERT regimen was assessed once every 12 months according to main GD parameters. The follow-up period in the study ranged from 12 to 36 months.Results. The patients with type I GD who achieved treatment goals following the standard ERT regimen and were then prescribed a reduced ERT regimen retained a stable therapeutic effect of the initial treatment according to all parameters: no clinically significant differences found in haemoglobin and platelet levels, spleen size and specific infiltration of femur bone marrow.Conclusion. An increase in the intervals between infusions of the recombinant glucocerebrosidase up to 4 weeks for 12, 24 and 36 months did not lead to worsening of the laboratory and instrumental parameters associated with GD. 

scholarly journals Gaucher Disease Type I: A Case Report

2020 ◽  
Vol 47 (3) ◽  
pp. 22-25
Author(s):  
D. Nikolova ◽  
A. Yordanov ◽  
V. Damyanova ◽  
A. Yavorova ◽  
A. Radinov
Keyword(s):  
Gaucher Disease ◽  
Clinical Symptoms ◽  
Systemic Disease ◽  
Disease Type ◽  
Type I ◽  
Lysosomal Storage ◽  
Laboratory Findings ◽  
Enzyme Replacement ◽  
Targeted Analysis ◽  
Laboratory Test Results

AbstractGaucher disease (GD) is a multi-systemic disease with a low population frequency. It is a lysosomal storage disorder (LSD) that causes accumulation of glucocerebroside in the so called Gaucher cells predominantly in areas like the spleen, liver and bone marrow. Type I GD (GDI) is the most common form and usually does not involve the brain and the spinal cord. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Diagnostics can often be challenging and imposes looking at person’s medical history, symptoms, physical exam, and laboratory test results. We present a difficult to diagnose case of a 34-year-old woman admitted to the Clinic of Hematology, “Sv. I. Rilski” hospital with splenomegaly, normal laboratory findings and non-enlarged liver. She didn’t show focal neurological symptoms. A series of tests were assigned including genetic targeted analysis. The case is an example of a rare genetic disease with mild clinical symptoms. Diagnosis of Gaucher disease, type I was confirmed by measurement of a GBA enzyme activity and identification of mutations in the GBA gene inherited in an autosomal recessive manner. Thanks to the efforts of the clinical team, the assignment of adequate clinical and laboratory tests and their correct interpretation, the patient was subjected to enzyme replacement therapy (ERT). Although the diagnosis was settled relatively late (at 34 years of age), the correct therapy slowed down the invalidation and improved the quality of life of the patient.

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