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Updated: Dec 25, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII]
Kaihui Zhang1, Yan Huang, Yuqiang Lyu
1Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
Objective:
To analyze the clinical and genetic characteristics of an infant girl featuring comprehensive developmental backwardness.
Methods:
The patient was subjected to clinical examination, gas chromatography mass spectrometry and next-generation sequencing (NGS).
Results:
The child was insensitive to sound, could not turn over, raise head, laugh or recognize his mother. Laboratory tests were all normal, but metabolic analysis suggested 3-methylglutaconic aciduria due to elevated 3-methylglutaconic acid and 3-methylglutaric acid. NGS has detected two compound heterozygous CLPB variants in the child, namely c.1085G>A and c.1700A>C, which were respectively inherited from her father and mother. Bioinformatic analysis predicted both variants to be pathogenic. The patient was diagnosed with 3-methylglutaconic aciduria type VII (MGCA7).
Conclusion:
The MGCA7 in the child was probably caused by CLPB gene variants. NGS has provided a powerful diagnostic tool for this rare disorder.
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