Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family

Zhi Jie Gao, Jiang Qian, Qian Chen, Ke Ming Xu

Research output: Contribution to journalArticle

Abstract

Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images indicated a poor development of corpus callosum, and a burst suppression pattern was found in the EEG. Results of target gene sequencing technology combined with multiplex ligation-dependent probe amplification (MLPA) indicated a heterozygous missense mutation of c.1786 C>T (p.R596X) in maternal exon 15 and a loss of heterozygosity of 4-15 exon gross deletions in paternal GLDC gene. These definite pathogenic mutations confirmed the diagnosis of NKH. The infant's clinical condition was not improved after treatment with adreno-cortico-tropic-hormone, topiramate and dextromethorphan, and he finally died at 4 months of age. Patients with NKH often exhibit complicated clinical phenotypes and are lack of specific symptoms. NKH could be diagnosed by metabolic screening and molecular genetic analysis.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalChinese Journal of Contemporary Pediatrics
Volume19
Issue number3
DOIs
StatePublished - Mar 25 2017
Externally publishedYes

Keywords

  • Gene mutation
  • GLDC gene
  • Infant
  • Nonketotic hyperglycinemia
  • Ohtahara syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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