Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: A prospective cohort study

Objective ( i ) To determine whether clinical features and biochemical parameters help to predict survival of methylmalonic acidemia with homocystinuria; ( ii ) To find the cutoff values of biochemical parameters for predicting survival of methylmalonic acidemia with homocystinuria. Design A prospective cohort study. Setting A pediatric tertiary hospital in Beijing; all patients were followed until death or June 2013. Subjects 45 pediatric patients diagnosed with methylmalonic acidemia with homocystinuria between 2006 and 2012. Outcome measures The data of clinical characteristics and pretreatment biochemical parameters were collected. The Cox regression analysis was performed to identify independent risk factors for survival of patients with methylmalonic acidemia and homocystinuria. The best cutoff values for these independent factors were determined by the receiver characteristic curve. Results Newborn onset (OR=6.856, 95%CI=2.241–20.976, P =0.001), high level of methylmalonic acid in urine (OR=1.022, 95%CI=1.011–1.033, P