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Enzymatic Diagnosis of Lysosomal Diseases An Experience in a Clinical Laboratory during the Period 1972–1980 1
Author(s) -
Suzuki Yoshiyuki
Publication year - 1980
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1980.tb00475.x
Subject(s) - medicine , lysosomal storage disease , mucolipidosis , mucopolysaccharidosis , amniotic fluid , pathology , prenatal diagnosis , neuraminidase , enzyme , incubation period , disease , pregnancy , fetus , andrology , immunology , biochemistry , incubation , biology , genetics , virus
During the period 1972–1980, the diagnostic system for lysosomal diseases was established in our laboratory using enzyme assays, biochemical analysis and cytological studies. Plasma, leukocytes, and skin fibroblasts were mainly utilized for the enzymatic diagnosis, and 1189 blood samples were sent to the laboratory during this 9 year period. The lysosomal storage diseases were found in 133 cases. These included lipidosis (89), glycogenosis (3), mucopolysaccharidosis (15) and mucolipidosis (26). Also prenatal diagnosis has been attempted in these diseases by the enzyme assay of cultured amniotic fluid cells, and the diagnosis was confirmed after birth or after the therapeutic abortion. Technical devices for the sensitive diagnostic procedures were developed by using NAD cycling method and microscopic fluorometry. Some cases with the new disease, β‐galactosidase‐neuraminidase deficiency, are briefly reviewed.