Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!

Introduction

Glycogen storage disease type 1a (GSD1a) is an autosomal recessive inborn errors of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase (G6Pase) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients with GSD Ia show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. A poor metabolic control may lead to long term complications including gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and hepatocellular carcinoma (Wei M et al., Adv Skin Wound Care 2021; 34: 1–5). Classical xanthinuria is a rare autosomal recessive metabolic disorder due to impaired xanthine dehydrogenase (XDH) activity resulting in lack of uric acid (UA) formation and accumulation of its precursors xanthine and hypoxanthine (Peretz H et al., Biomedicines 2021; 9: 788). Type I xanthinuria (MIM 278300) is caused by variants in the XDH gene and results in isolated XDH deficiency (Peretz H et al., JIMD Rep. 2019; 51: 45–52). Herein we present a patient affected by GSD Ia and XDH deficiency with uric acid abnormality.

Publication History

Article published online:
08 September 2022