[Prenatal diagnosis of enzymopathies of the urea cycle]

B Chadefaux; D Rabier; P Kamoun

[Prenatal diagnosis of enzymopathies of the urea cycle]

Ann Biol Clin (Paris). 1988;46(7):471-6.

[Article in French]

Authors

B Chadefaux¹, D Rabier, P Kamoun

Affiliation

¹ Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.

PMID: 3056128

Abstract

Seven defects of the urea cycle enzymes were obtained in 48 hours at-risk pregnancies. A new method for measuring ornithine transcarbamylase and carbamylphosphate synthetase-I was used for prenatal diagnosis of the related enzymopathies in chorionic villi.

Publication types

English Abstract
Review

MeSH terms

Argininosuccinate Synthase / deficiency*
Argininosuccinic Aciduria*
Carbamoyl-Phosphate Synthase (Ammonia) / deficiency*
Female
Humans
Hyperargininemia
Ligases / deficiency*
Lyases / deficiency*
Ornithine Carbamoyltransferase Deficiency Disease*
Pregnancy
Prenatal Diagnosis*
Urea / metabolism*

Substances

Urea
Lyases
Ligases
Carbamoyl-Phosphate Synthase (Ammonia)
Argininosuccinate Synthase