title: Juvenile gout in methylmalonic acidemia.
abstract: Methylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl-CoA mutase or a defect in adenosyl-cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia. Symptomatic hyperuricemia or gout, however, has not been reported in MMA. We herein report two pediatric cases of MMA caused by MMAB mutations (cblB defect) with renal tubular acidosis, chronic kidney disease, hyperuricemia, and gout. The clinical findings of gout in these cases included recurrent first metatarsophalangeal arthritis and/or tophi. The patients responded to treatment with colchicine and allopurinol.
authors.affiliation: Division of Rheumatology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Sirirat
authors.initials: S
authors.lastname: Charuvanij
authors.affiliation: Division of Nephrology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Anirut
authors.initials: A
authors.lastname: Pattaragarn
authors.affiliation: Division of Dermatology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Wanee
authors.initials: W
authors.lastname: Wisuthsarewong
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Nithiwat
authors.initials: N
authors.lastname: Vatanavicharn
keywords: chronic kidney disease; gout; hyperuricemia; juvenile; methylmalonic acidemia