Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA‐mutation analysis and a subsequent pregnancy with a healthy child in the same family. © 1997 John Wiley &a...

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Bibliographic Details
Published in:Prenatal diagnosis 1997-10, Vol.17 (10), p.964-966
Main Authors: Mustonen, Aki, Ploos Van Amstel, Hans Kristian, Berger, Ruud, Salo, Matti K., Viinikka, Lasse, Simola, Kalle O. J.
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - genetics
Biological and medical sciences
Chorionic Villi Sampling
Gynecology. Andrology. Obstetrics
Heterozygote
Humans
Hydrolases - genetics
Infant
Liver Failure - blood
Liver Failure - genetics
Male
Management. Prenatal diagnosis
Medical sciences
Mutation - genetics
mutation analysis
Pregnancy. Fetus. Placenta
prenatal diagnosis
tyrosinaemia
Tyrosine - blood
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Summary:Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA‐mutation analysis and a subsequent pregnancy with a healthy child in the same family. © 1997 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/(SICI)1097-0223(199710)17:10<964::AID-PD164>3.0.CO;2-6