Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018099 (
gout
)
5,192
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Juvenile gout in methylmalonic acidemia. 2695 25
