Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.

Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase () gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of mutations and the genotype-phenotype association remain unclear. Here, we present a severely affected infant carrying a compound heterozygous variation, c.

Novel Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review.

Nonketotic hyperglycinemia (NKH) is a lethal autosomal recessive disease resulting from alterations in glycine metabolism, commonly caused by mutations in glycine decarboxylase (). The symptoms of NKH usually manifest in the neonatal period, and can be categorized into severe NKH and attenuated NKH based on the clinical outcome. To date, only a few NKH cases have been reported in China.

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.

Background: N-methyl-D-aspartate (NMDA) receptors are ligand-gated ion channels that mediate excitatory synaptic transmission in the central nervous system. The functional NMDA receptors are heterotetramers consisting mainly of two GluN1 and two GluN2 subunits. GluN2 is encoded by the GRIN2D gene.

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in Cause Recessive Classical Galactosemia.

Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase () gene. This study aim to identify pathogenic mutations underlying classic galactosemia in two Chinese families. We collected blood samples from two Chinese families and extracted genomic DNA.