ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2017
[Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- The Application Value of Early Amplitude-Integrated Electroencephalogram in a Newborn with Nonketotic Hyperglycinemia: A Rare Case Report.AJP reports · 2025Article
- Natural history and outcome of nonketotic hyperglycinemia in China.Frontiers in neurology · 2024Article
- Clinical and genetic analysis of nonketotic hyperglycinemia: A case report.World journal of clinical cases · 2022Article
- NovelFrontiers in pediatrics · 2021Article
- A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.BMC medical genetics · 2018Article
- [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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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.
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28302194PMC7390153W2888954084What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.