Shi HP1, Zhang WM1, Guo YF1,
Zhao SM2, Sun NH2
1 Institute
of Basic Medical Sciences, CAMS, School of Basic Medicine, PUMC, Beijing
2 PUMC
Hospital, Beijing
Objective: Lysosomal storage diseases (LSD) constitute a group
of inherited metabolic diseases, in which lysosomal acid hydrolases are
deficient, resulting in accumulation of the substrate of the affected hydrolase
within lysosomes. Since there is no definitive treatment for LSD, except
Gaucher disease, accurate prenatal diagnosis is the only way to prevent the
birth of affected fetuses.
Methods: Microanalysis of enzyme activity is adapted from the Department of
clinical genetics, Erasmus University, Rotterdam, the Netherlands. 15 kinds of
methods for enzyme assays were set up.
Result: Since 1991,179 index patients were diagnosed based on the
characteristic clinical manifestation and specific enzyme assay. Prenatal
diagnosis has been carried out in 47 pregnancies at risk of LSD (19
mucopolysaccharidoses, 7 GM1 gangliosidosis, 3 GM2 gangliosidosis,6
metachromatic leukodystrophy, 5 Gaucher disease, 4 Niemann-Pick disease and 3
mucolipidosis) in early pregnancy, 10 affected fetuses were detected Gaucher
disease (GD) is the most prevalent LSD. We have performed gene analysis from 10
Chinese patients with GD. Mutation L444P is the most frequent and accounts for
40% of the alleles, which is associated with all type of GD. The genotype of
one case is L444P/L444P. His mother had another pregnancy, the prenatal
diagnosis was carried out by both enzyme assays and PCR/PFLP. The result is
that the fetus is a heterozygote of GD.
Conclusion: Microanalysis of enzyme activity is a reliable method
for postnatal and prenatal diagnosis of LSD.