Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots

Campos, Derbis; Monaga, Madelyn; González, Ernesto Carlos; Herrera, Darlenis

doi:10.1016/j.cca.2013.12.035

Cited by 3 publications

(4 citation statements)

References 10 publications

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“…While programs in Cuba and Chile have not changed their screening panels since 2007, Chile is working to pilot expanded NBS to include 25 conditions in 2015, and researchers in Cuba have reported on several new screening techniques for both traditional (PKU, GAL, and CAH) 122-124 and future screening (Gaucher and MPS I heterozygotes). 125,126 Currently, NBS in Cuba is decentralized through more than 175 laboratories. In Costa Rica, CF was added to the screening panel in 2009, building on the pilot program previously reported.…”

Section: Latin Americamentioning

confidence: 99%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

467

418

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Section: Latin Americamentioning

confidence: 99%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

467

418

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“…In 2006, Civallero et al described enzymatic (fluorescence and radiometric) assays for twelve different LSD-enzymes [15]. Some years later, an optimized enzymatic assay for MPS I was published in which the problem of interference of hemoglobin was diminished [16]. …”

Section: Measuring Lysosomal Enzymatic Activities and Biomarkers Imentioning

confidence: 99%

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Schielen

Kemper

Gelb

2017

IJNS

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Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.

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“…They have lower levels of enzymatic activity, but overlap with those of normal people [5]. Studies of fibroblast, plasma and leukocyte samples show differential biochemical behavior of alpha-L-iduronidase derived from carriers of the mutant MPS gene compared to normal individuals [5–7]. There is evidence of possible progressive clinical manifestations in carriers of MPS II [8].…”

Section: Discussionmentioning

confidence: 99%

“…In mutant MPS gene carriers changes in enzyme activity and properties have been observed and reported. They have lower levels of enzymatic activity, but overlap with those of normal people [5]. Studies of fibroblast, plasma and leukocyte samples show differential biochemical behavior of alpha-L-iduronidase derived from carriers of the mutant MPS gene compared to normal individuals [5–7].…”

Section: Discussionmentioning

confidence: 99%

Cardiovascular damage in parents of patients with mucopolysaccharidoses

Nguyen,

Reznik,

Semyachkina

et al. 2024

Preprint

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases. Cardiovascular pathology occurs in all types of MPS, represented by valvular defects, myocardial hypertrophy, and coronary artery disease. Cardiovascular abnormalities in parents of carriers with MPS are poorly understood, which was the purpose of our work. In 2022 year 21 parents (81% female) of children with MPS were examined.The median (25th and 75th percentiles) of age was 36 (33; 37) years. All MPS carriers-parents underwent a standard clinical and laboratory examination, ECG, echocardiography, 24-hour Holter ECG monitoring. There were no confirmed myocardial and brain infarctions, diabetes mellitus in the examined carriers. Arterial hypertension was diagnosed in 14.3% of carriers. A decrease in LV ejection fraction <40% was found in 4.8%, up to 40-50% in 9.5% of carriers. LV wall thickness ?1.5 cm was detected in 66.7% of carriers, asymmetric LVH in 85.7%. Thickening of the mitral valve leaflets (MV) was detected in 76.2% of carriers. Hydropericardium was detected in 23.8% of carriers. Atrial fibrillation was registered in 4.8%, atrial flutter - in 4.8%, paroxysmal supraventricular tachycardia - in 33.3%, sinus bradycardia - in 14.3%; conduction disorders - in 71.4% of carriers. A short PR interval was detected on the ECG 9.5% of carriers. A prolonged QT interval was registered in 14.3% of carriers, transient ST-segment depression in 47.6%, ST-segment elevation in 14.3% of carriers. Our results suggest the possibility of clinical manifestations of cardiac involvement in MPS carriers.

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Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots

Cited by 3 publications

References 10 publications

Current status of newborn screening worldwide: 2015

Current status of newborn screening worldwide: 2015

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Cardiovascular damage in parents of patients with mucopolysaccharidoses

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