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Juvenile gout in methylmalonic acidemia
Sirirat Charuvanij1, Anirut Pattaragarn2, Wanee Wisuthsarewong3
1Division of Rheumatology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Summary
Methylmalonic acidemia (MMA), a metabolic disorder, can lead to kidney disease and hyperuricemia. This study reports the first cases of gout in pediatric MMA patients, successfully treated with colchicine and allopurinol.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Methylmalonic acidemia (MMA) is an inherited metabolic disorder.
- It results from defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis.
- Chronic kidney disease and hyperuricemia are known complications of MMA.
Observation:
- Gout has not been previously reported in patients with MMA.
- Two pediatric cases of MMA (cblB defect) presented with renal tubular acidosis, chronic kidney disease, and hyperuricemia.
- These patients exhibited symptomatic gout, including arthritis and tophi.
Findings:
- The study identified symptomatic gout in pediatric MMA patients with MMAB mutations.
- Clinical manifestations included recurrent first metatarsophalangeal arthritis and tophi.
- Treatment with colchicine and allopurinol was effective in managing gout symptoms.
Implications:
- This research highlights gout as a potential, previously unreported complication of MMA.
- It underscores the importance of monitoring for hyperuricemia and its sequelae in MMA patients.
- The findings suggest effective therapeutic strategies for gout in this population.
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