Article
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
BMC medical genetics - 5 Jan 2018
Lin Yiming, Zheng Zhenzhu, Sun Wenjia, Fu Qingliu
Abstract excerpt
BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family with NKH. METHODS: A Chinese family of Han ethnicity, with three siblings with NKH was studied. Sanger sequencing and...
Topics
- Amino Acid Sequence
- Asian People
- China
- Exons
- Female
- Genetic Variation
- Genotype
- Glycine
- Glycine Dehydrogenase (Decarboxylating)
- Heterozygote
- Humans
- Hyperglycinemia, Nonketotic
- Infant, Newborn
- Male
- Mutation, Missense
- Pedigree
- Sequence Deletion
- Siblings