Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency

U von Döbeln; N Venizelos; M Westgren; L Hagenfeldt

doi:10.1007/BF00711615

Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 1994;17(2):185-8. doi: 10.1007/BF00711615.

Authors

U von Döbeln¹, N Venizelos, M Westgren, L Hagenfeldt

Affiliation

¹ Department of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Sweden.

PMID: 7967472
DOI: 10.1007/BF00711615

Abstract

Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / analysis
3-Hydroxyacyl CoA Dehydrogenases / deficiency*
Cells, Cultured
Chorionic Villi / enzymology*
Culture Media
Fibroblasts / enzymology
Humans
Infant, Newborn
Liver / embryology
Liver / enzymology*
Male
Prenatal Diagnosis*

Substances

Culture Media
3-Hydroxyacyl CoA Dehydrogenases