Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

Abstract

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val are mutations hitherto undescribed, and all three mutations are predicted to alter the secondary structure of GCDH. Molecular analysis is useful for definite diagnosis and/or prenatal diagnosis of GA-I.

Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

“…In Hong Kong and Tawian Chinese, IVS 10-2AC is the recurrent mutation (7, 8). Three point mutations including two novel mutations (p.Ser305Leu, p.Met-339Val, p.Arg355His) were reported in two Japanese patients (9). Although, the common mutation of our patients, p.Ser-139Leu, was first reported in 1998 from Western population (10), few reports have discussed the biochemical or clinical phenotype of this mutation after that.…”

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families

“…This mutation was first reported in a homozygous Japanese patient (Ikeda et al, 1998). It was not detected in the screening of 80 samples and R355 is conserved across species.…”

Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)

“…Among the 10 patients, 6 were previously described in case reports [9][10][11][12]. The 7 control cell lines were also used.…”