POSTNATAL
AND PRENATAL DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES
Shi HP1,
Zhang WM1, Guo YF1, Zhao SM2, Sun NH2
1 Institute of basic
Medical Sciences, CAMS, School of Basic Medicine, PUMC, Beijing, China
2 PUMC
Hospital, Beijing, China
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, Netherlands.
15 Kinds of methods for enzyme assays were set up.
Results: 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 types 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/RFLP. 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.