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Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid
Author(s) -
Poudrier Jacques,
Lettre Francine,
StLouis Maryse,
Tanguay Robert M.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#
Subject(s) - amniotic fluid , tyrosinemia , metabolite , prenatal diagnosis , compound heterozygosity , fetus , heterozygote advantage , genotyping , medicine , endocrinology , pregnancy , chemistry , allele , biology , genetics , genotype , biochemistry , tyrosine , gene
Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylacetone in amniotic fluid has recently been described (Grenier et al ., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6‐1g→t. The low level of succinylacetone cannot be explained by these mutations. Copyright © 1999 John Wiley & Sons, Ltd.