Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Kingma, Sytze; Bodamer, Olaf A.; Wijburg, Frits A.

doi:10.1016/j.beem.2014.08.004

Cited by 107 publications

(86 citation statements)

References 76 publications

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“…B. im Frühstadium einer LSK, das bisweilen schon im intrauterinen Zeitraum als Hydrops fetalis imponieren kann. Angesichts der Vielzahl der bekannten LSK, die weiter ansteigt und 50 Formen längst überschreitet [1,8], wird sich daran kaum etwas ändern, auch wenn bereits ganze Cluster von Genen auf einmal untersucht werden können.…”

Section: Hintergrundunclassified

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Lysosomale Speicherkrankheiten

Bornemann

Harzer

2015

Pathologe

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The pathologist may be the first to suspect LSD and this applies to LSDs that show storage histiocytes or one of a number of other LSDs in which only minor or absent storage is seen in histiocytes but marked storage phenomena are found in other cell systems. Some of the numerous, extremely heterogeneous LSDs may, however, be overlooked as detailed knowledge of the generally rare LSDs is the domain of LSD specialists. Clinicians, pathologists, geneticists and biochemists should cooperate in solving the diagnostic problems.

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Section: Hintergrundunclassified

“…Alle LSK zusammen kommen grob geschätzt auf eine Prävalenz [8] von > 0,0005, die Lipidosen zusammen auf > 0,0003. Einzelprävalenzen erreichen bei der Gaucher-Krankheit (häufigste LSK) ca.…”

Section: Formen Und Unterformenunclassified

Lysosomale Speicherkrankheiten

Bornemann

Harzer

2015

Pathologe

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“…Since dried blood spot (DBS) is non-invasive, low-cost, easily transportable, has acceptable enzyme stability compared to leucocyte and/or fibroblast culture, it is recommended as a first screening test. However the false positive rate with DBS sample is higher compared to other samples (1)(2)(3). DBS is a sample from the total blood of subjects, it contains erythrocytes, leucocytes, thrombocytes which might affect the enzyme activity measurement.…”

Section: Introductionmentioning

confidence: 99%

“…It is critically important to diagnose patients in the early stages of this disease since enzyme replacement therapy might prevent complications and also increase life expectancy. Although the determination of enzyme activities in leucocyte and/or fibroblast samples are recommended as the gold standard, these samples are not preferred for screening due to their disadvantages; namely; sampling is invasive, the method is expensive, fast transportation is essential etc (1)(2)(3). Since dried blood spot (DBS) is non-invasive, low-cost, easily transportable, has acceptable enzyme stability compared to leucocyte and/or fibroblast culture, it is recommended as a first screening test.…”

Section: Introductionmentioning

confidence: 99%

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

Sözmen¹,

Dondurmacı²,

Uçar³

et al. 2018

jpr

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“…1 A broad clinical presentation is associated with LSDs, which includes visceral, ocular, hematological, skeletal, and neurological manifestations. These outcomes eventually affect lifespan, as well as physical and intellectual performance of the patients, determining an important challenge in terms of public health, social rights, and economic costs for the society.…”

Section: Introductionmentioning

confidence: 99%

Small Molecules

Ortolano

2016

Journal of Inborn Errors of Metabolism and Screening

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Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates. Patient's clinical outcomes have significantly improved since the advent of enzyme replacement therapy, even though this therapeutic approach presents important limitations, such as immune reactions, low bioavailability of recombinant enzymes, and incapability to reach the central nervous system. New strategies based on gene therapy or small molecules have been proposed and tested as an alternative to enzyme replacement therapy or to complement it. Small molecules are orally administrated, no antigenic compound that can diffuse across cell membranes and distribute in steady-state concentrations, also reaching the central nervous system. Substrate reduction therapy, pharmacological chaperones, and stop-codon read-through enhancers are small molecules currently available for the treatment of lysosomal storage disorders. This article describes the characteristics of this class of compounds and the possible strategies to improve their efficiency in future development.

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Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Cited by 107 publications

References 76 publications

Lysosomale Speicherkrankheiten

Lysosomale Speicherkrankheiten

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

Small Molecules

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