First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk

C Pérez-Cerdá; B Merinero; A Jiménez; M J García; P Sanz; L Ijlst; R J Wanders; M Ugarte

doi:10.1002/pd.1970130616

First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk

Prenat Diagn. 1993 Jun;13(6):529-33. doi: 10.1002/pd.1970130616.

Authors

C Pérez-Cerdá¹, B Merinero, A Jiménez, M J García, P Sanz, L Ijlst, R J Wanders, M Ugarte

Affiliation

¹ Dpto Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, Spain.

PMID: 8372080
DOI: 10.1002/pd.1970130616

Abstract

Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.

Publication types

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

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / deficiency*
Chorionic Villi Sampling*
Female
Humans
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*
Pregnancy
Risk Factors

Substances

3-Hydroxyacyl CoA Dehydrogenases