Novel compound heterozygous LIAS mutations cause glycine encephalopathy

J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25.


Glycine encephalopathy (GCE) is a rare autosomal recessive disorder caused by defects in the glycine cleavage complex. Here we report a patient with GCE and elevated level of glycine in both the serum and the cerebrospinal fluid. Trio-based whole-exome sequencing identified novel compound heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS. To date, three homozygous mutations have been reported in LIAS. All previously reported GCE patients also show elevated level of serum glycine. Our data further supports LIAS mutations as a genetic cause for GCE.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Exome*
  • Female
  • Glycine* / blood
  • Glycine* / cerebrospinal fluid
  • Glycine* / genetics
  • Heterozygote*
  • Humans
  • Hyperglycinemia, Nonketotic* / blood
  • Hyperglycinemia, Nonketotic* / cerebrospinal fluid
  • Hyperglycinemia, Nonketotic* / genetics
  • Mutation*


  • Glycine