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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):443-446. doi: 10.3760/cma.j.issn.1003-9406.2019.05.007.

[Clinical and genetic analysis of two children suspected for argininosuccinic aciduria].

[Article in Chinese]

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Genetic Medicine Center, Nanjing Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Care Hospital), Nanjing, Jiangsu 210004, China. Email:



To analyze the clinical and genetic features of two children suspected for arginylsuccinuria aciduria.


The patients were subjected to high-throughput sequencing using a gene panel.


Both patients had high citrulline (87.37-156.10 ╬╝mol/L) measured by mass spectrometry/mass spectrometry (MS/MS) upon neonatal screening but had no symptoms. Two compound heterozygous variants of the ASL gene were detected in patient 1 (exon 6: c.467C>T inherited from her father and exon 7: c.556C>T inherited from her mother), among which c.556C>T is novel. Patient 2 had mental retardation and two full siblings who had died of hyperammonemia. Two compound heterozygosity variants of the ASL gene were detected (exon 3: c.281G>T inherited from his father and intron: c.208-15T>A inherited from his mother). Both were novel mutations.


Variants of the ASL gene probably underlie the argininosuccinic aciduria in the two patients. Above findings have enriched the spectrum of ASL mutations.

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