A proposal to consider: sensitivity, specificity and normal range values of the enzymatic deficiency of lysosomal enzymes.

Volume 1, Issue 2, December 2016     |     PP. 323-335      |     PDF (373 K)    |     Pub. Date: January 4, 2017
DOI:    381 Downloads     6897 Views  

Author(s)

María de la Caridad Menéndez-Sainz, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.
Sergio González-García, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.
Alina González-Quevedo, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.
Marisol Peña-Sánchez, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.
Rebeca Fernández-Carriera, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.
Anay Cordero-Eiriz, Institute of Neurology and Neurosurgery. Calle 29 No 114, e/ D y E. Vedado. CP 10400. Havana, Cuba.

Abstract
Background. Lysosomal storage diseases (LSD) are a group of more than 50 genetic disorders and demonstrating deficiency of enzyme activity (EA) should be the first step in its diagnosis. Referral for molecular studies when an LSD is suspected is mainly based in the measurement of the percent relative enzyme activity; nevertheless, the great variability observed in healthy subjects can make the decision unreliable, especially when the patient has some degree of residual activity. Objectives. To evaluate the sensitivity and specificity of enzymatic diagnosis in leukocytes and describe normal values of EA in amniocytes and leukocytes. Design and Methods. 16 lysosomal enzymes from leukocytes were studied in 151 LSD patients and 869 apparently healthy subjects. Enzyme activities for 13 LSDs were studied in 72 amniocyte cultures at 13 and 18 days culture (12 suspected LSDs and 60 controls). Results. The EA for lysosomal enzymes were significantly lower in LSD patients than in controls; the sensitivity and specificity of EA for diagnosis of LSD were mainly above 95% in the majority of the diseases. The normal lysosomal EA in amniocytes was reported; 12 prenatal diagnoses assayed resulted negative for LSD. Conclusions.The high sensitivity and specificity of the enzymatic diagnosis of LSDs suggests its utility to identify subjects with the suspicion of LSD. The description of the normal range of 16 lysosomal enzymes in leukocytes and 13 enzymes in amniocytes could be an important source of information for further studies.

Keywords
sensitivityspecifitynormal rangeenzymaticlysosomaldeficiency

Cite this paper
María de la Caridad Menéndez-Sainz, Sergio González-García, Alina González-Quevedo, Marisol Peña-Sánchez, Rebeca Fernández-Carriera, Anay Cordero-Eiriz, A proposal to consider: sensitivity, specificity and normal range values of the enzymatic deficiency of lysosomal enzymes. , SCIREA Journal of Clinical Medicine. Volume 1, Issue 2, December 2016 | PP. 323-335.

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