Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene

Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain atrophy, microencephalic macrocephaly, decreased coordination of swallowing, poor muscle coordination, spasticity, and severe dystonic movement disorder.

Source: Taiwanese Journal of Obstetrics and Gynecology - February 1, 2018 Category: OBGYN Authors: Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang Tags: Case Report Source Type: research