First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies
- PMID: 3098466
- DOI: 10.1111/j.1399-0004.1986.tb00610.x
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies
Abstract
Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid alpha-glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid alpha-glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7-13 weeks, 1-15% of the total alpha-glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling. A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenatal diagnosis.
Similar articles
-
Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.Clin Genet. 1985 May;27(5):479-82. doi: 10.1111/j.1399-0004.1985.tb00235.x. Clin Genet. 1985. PMID: 3891160
-
Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.S Afr Med J. 1980 Nov 22;58(21):860-2. S Afr Med J. 1980. PMID: 6777881
-
A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).J Inherit Metab Dis. 1978;1(3):85-8. doi: 10.1007/BF01805678. J Inherit Metab Dis. 1978. PMID: 116083
-
Glycogenosis type II (acid maltase deficiency).Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Review.
-
Laboratory diagnosis of the neuromuscular glycogen storage diseases.Ann Clin Lab Sci. 1982 Nov-Dec;12(6):431-8. Ann Clin Lab Sci. 1982. PMID: 6817693 Review.
Cited by
-
Endometrial Glucose Metabolism During Early Pregnancy.Reprod Fertil. 2023 Nov 1;4(4):e230016. doi: 10.1530/RAF-23-0016. Online ahead of print. Reprod Fertil. 2023. PMID: 37934727 Free PMC article.
-
First trimester diagnosis of glycogen storage disease type II and type III.J Inherit Metab Dis. 1989;12 Suppl 2:289-91. doi: 10.1007/BF03335401. J Inherit Metab Dis. 1989. PMID: 2512428 No abstract available.
-
Prenatal diagnosis of enzyme defects.Arch Dis Child. 1990 Jan;65(1 Spec No):59-67. doi: 10.1136/adc.65.1_spec_no.59. Arch Dis Child. 1990. PMID: 2407202 Free PMC article. Review. No abstract available.
-
Diagnosis of glycogen storage disease.J Inherit Metab Dis. 1990;13(4):419-34. doi: 10.1007/BF01799499. J Inherit Metab Dis. 1990. PMID: 2146442
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
