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A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted. Targeted gene sequencing revealed a novel composite heterozygous c.190G&gt;T/c.508C&gt;T mutation in the G6PC gene of the patient, leading to a diagnosis of glycogen storage disease type Ia. Her father possessed a heterozygous c.190G&gt;T mutation, and her mother possessed a heterozygous c.508C&gt;T mutation. A search of the previous literature revealed 16 reported cases of glycogen storage disease type Ia with gout. Here, we describe a female patient with gout, review previous cases, and discuss the mechanisms of gout and hyperuricaemia in glycogen storage disease type Ia.

clinical rheumatology

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review