Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8784442 | Taiwanese Journal of Obstetrics and Gynecology | 2018 | 4 Pages |
Abstract
Glutaric acidemia type 1 is an autosomal recessive disorder because of pathogenic mutations in the GCDH gene. Early diagnosis and therapy of glutaric acidemia type 1 can reduce the risk of neuronal damage and acute dystonia. We report a case of prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous GCDH gene mutation at IVS 3Â +Â 1 GÂ >Â A and c. 1240 GÂ >Â A mutations, which provide better genetic counselling for the couples.
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Authors
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang,