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Change and significance of urinary hydrogen sulfide in the patients with methylmalonic acidemia

??Objective??To investigate the changes and diagnostic value of urinary hydrogen sulfide??H2S?? in the patients with methylmalonic acidemia??MMA??. Methods??The urine samples from 20 cases??13 males and 7 females??patient group?? of MMA were collected when the patients visited Peking University First Hospital from September 2016 to November 2017. The normal urine samples were collected from 20 healthy children??11 males and 9 females??control group?? who had normal development and metabolic condition. H2S in the urine of normal children and MMA children was determined by free radical detector. The differences of urinary H2S concentration between the two groups were analyzed. The ROC curve of urine samples was evaluated. Results??The urinary H2S concentration of the 20 MMA cases was higher than that in the control group??64.9±52.0?? μmol/L vs.??43.9±40.0?? μmol/L. The difference was significant statistically??Z??-3.435??P??0.001??. The area under the curve??AUC?? was 0.818 in the ROC curve analysis of MMA with urinary H2S concentration and 47.72 μmmol/L in urine H2S as a cut-off value. The sensitivity and specificity were 95% and 60% respectively. Conclusion??The concentration of urinary H2S is increased in the patients with MMA. Urinary H2S concentration might be a biochemical marker for the early diagnosis MMA in neonatal screening. It is helpful to evaluate the treatment patients and follow-up of MMA.