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.
Mustonen
A
A
Department of Clinical Genetics, Tampere University Hospital, Finland.
Ploos van Amstel
H K
HK
Berger
R
R
Salo
M K
MK
Viinikka
L
L
Simola
K O
KO
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D015193:Chorionic Villi Sampling; D006579:Heterozygote; D006801:Humans; D006867:Hydrolases / Q000235:genetics; D007223:Infant; D017093:Liver Failure / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase