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[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII].

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.