Prenatal diagnosis of the urea cycle diseases: a survey of the European cases

A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylp...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 55; no. 2; p. 247
Main Authors Kamoun, P, Fensom, A H, Shin, Y S, Bakker, E, Colombo, J P, Munnich, A, Bird, S, Canini, S, Huijmans, J G, Chadefaux-Vekemans, B
Format Journal Article
LanguageEnglish
Published United States 16.01.1995
Subjects
Argininosuccinic Acid - metabolism
Humans
Metabolism, Inborn Errors - diagnosis
Ornithine Carbamoyltransferase Deficiency Disease
Prenatal Diagnosis
Urea - metabolism
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Summary:A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods.
ISSN:0148-7299
DOI:10.1002/ajmg.1320550220