Journal Article

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

Spada, Marco, Pession, Andrea, Di Rocco, Maja, Fecarotta, Simona, Fiumara, Agata, Burlina, Alberto, Venturelli, Francesco, Donati, Maria Alice, Vici, Carlo Dionisi, Concolino, Daniela

2023

Overview

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.

• Publisher: Springer Science and Business Media LLC,BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Acid Sphingomyelinase Deficiency / Acid Sphingomyelinase Deficiency; Gaucher Disease; Lysosomal Storage Diseases; Selected population screening; Splenomegaly / Adults / Algorithms / Analysis / Antiship missile defenses / Child development / Children / Diagnosis / Differential diagnosis / Disease / Enzymatic activity / Enzymes / Gaucher Disease / Gaucher's disease / Health aspects / High density lipoprotein / Human Genetics / Humans / Infant, Newborn / Laboratories / LSD / Lysergic acid diethylamide / Lysosomal Storage Diseases / Mass spectrometry / Mass spectroscopy / Medical research / Medical screening / Medicine / Medicine & Public Health / Metabolic disorders / Metabolism, Inborn errors of / Methods / Neurodegeneration / Niemann-Pick Disease, Type A / Niemann-Pick Diseases / Patients / Pediatrics / Pharmacology/Toxicology / R / Rare diseases / Selected population screening / Sphingomyelin phosphodiesterase / Splenomegaly / Tandem Mass Spectrometry / Thrombocytopenia