title: Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
abstract: 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>T/c.508C>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>T mutation, and her mother possessed a heterozygous c.508C>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.
authors.affiliation: Department of Internal Medicine, Chinese Academy of Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China.
authors.forename: Bingqing
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of General Internal Medicine, Chinese Academy of Sciences and Peking Union Medical College, Peking Union Medical College Hospital, No. 1 Shuaifuyuan Street, Dongcheng District, Beijing, China. zxjpumch@163.com.
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zeng
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006073:Gout / Q000150:complications* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009154:Mutation
chemical_list: D005952:Glucose-6-Phosphatase; C492194:G6PC2 protein, human
keywords: Glycogen storage disease type Ia; Gout; Hyperuricaemia