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. 2023 Jul 21;18(1):197.
doi: 10.1186/s13023-023-02797-0.

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Maja Di Rocco  1 , Carlo Dionisi Vici  2 , Alberto Burlina  3 , Francesco Venturelli  4 , Agata Fiumara  5   6 , Simona Fecarotta  7 , Maria Alice Donati  8 , Marco Spada  9 , Daniela Concolino  10 , Andrea Pession  11
Affiliations

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Maja Di Rocco et al. Orphanet J Rare Dis. .

Abstract

Background: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis.

Results: the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis.

Conclusions: we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders.

Keywords: Acid Sphingomyelinase Deficiency; Gaucher Disease; Lysosomal Storage Diseases; Selected population screening; Splenomegaly.

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Figures

Fig. 1
Fig. 1
The combined algorithm for GD and ASMD.
See this image and copyright information in PMC

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