Zeitschrift für Fettleibigkeit und Stoffwechsel

Abstrakt

Importance of Including Acid Sphingomyelinase Deficiency (ASMD) in Patients Suspected of Having Gaucher Disease in the Differential Diagnosis

Romana Prusa

The clinical appearance of sphingolipidosis drives frequently to misclassification between corrosive sphingomyelinase inadequacy (ASMD) and Gaucher sickness. We looked into a group of 31,838 people from 61 countries who were clinically suspected to have Gaucher disease in this prospective, multicenter study. Tandem mass spectrometry was used to measure the enzyme activities of acid-glucocerebrosidase and acid sphingomyelinase in dried blood spot specimens for each sample. Genetic confirmatory testing was used in potential positive cases. Altogether, 5933 indicative cases showed diminished chemical exercises and were submitted for hereditary corroborative testing. 1411 out of 5933 cases (24 percent) had Gaucher disease, and 550 out of 5933 had ASMD (9%). The majority of confirmed ASMD cases were infants and young children under the age of two (63%). According to the findings of this study, one in every four cases of Gaucher disease are found to have ASMD. A recently approved enzyme replacement therapy for ASMD necessitates an appropriate diagnostic workup at an early stage. In conclusion, in clinically suspected cases of sphingolipidosis, a diagnostic strategy that includes genetic confirmatory testing and differential biochemical testing is  highly recommended.