Objective: To explore the genetic etiology of a patient with glycogen accumulation type Ⅰa with gout as the main clinical feature.
Methods: Clinical data of the patient was collected. The patient and her parents were subjected to next generation sequencing (NGS). Suspected pathogenic variation was verified by Sanger sequencing.
Results: The patient, a 30-year-old women, mainly manifested hyperuricemia, chronic gouty arthritis, fasting hypoglycemia, hypertriglyceridemia, hyperlactatemia, hepatomegaly, urolithiasis, and gradually developed liver nodules and renal dysfunction. NGS revealed that she has carried c.648G>T (exon 5) and c.260delG (exon 2) compound heterozygous variants of the G6PC gene, which were respectively inherited from her father (phenotypically normal) and mother (with hyperuricemia). The c.260delG variant was unreported previously. Bioinformatic analysis indicated that both variants are pathogenic.
Conclusion: The compound heterozygous variants of the G6PC gene probably underlay the glycogen storage disease Ⅰa in this patient. G6PC gene mutations should be excluded in young women with hyperuricemia and /or gout.