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

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Abstract

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<0.001), and high level of urea in serum (OR=1.083, 95%CI=1.027–1.141, P=0.003) were independent negative risk factors for survival of patients with methylmalonic acidemia and homocystinuria. The cutoff values of maximum predictive accuracy of methylmalonic acid in urine and urea in serum were respectively 5.41 mmol/mmol creatinine and 7.80 mmol/L by receiver operating characteristic curve analysis.

Conclusion

The patients of methylmalonic acidemia with homocystinuria tend to have an adverse outcome if they have newborn onsets. Elevated urea and urinary methylmalonic acid are predictors of adverse outcomes for the patients. They show similar effect for predicting severe adverse prognosis. The combination of methylmalonic acid in urine concentration and urea in serum concentration provided the most accurate predictive tool.

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Authors and Affiliations

  1. Department of Medical Laboratory, Xuanwu Hospital, Beijing Children’s Hospital, Capital Medical University, Beijing, 100053, China

    Qiliang Li, Wenqi Song & Peichang Wang

  2. Department of Intensive Care Unit, Xuanwu Hospital, Beijing Children’s Hospital, Capital Medical University, Beijing, China

    Quan Wang

  3. Department of Neurology, Xuanwu Hospital, Beijing Children’s Hospital, Capital Medical University, Beijing, China

    Xinying Yang & Jiuwei Li

  4. Department of Nephrology, Xuanwu Hospital, Beijing Children’s Hospital, Capital Medical University, Beijing, China

    Qiang Sun

  5. Department of Epidemiology and Biostatistics, Xuanwu Hospital, Beijing Children’s Hospital, Capital Medical University, Beijing, China

    Xiaoxia Peng

Authors
  1. Qiliang Li
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  2. Wenqi Song
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  3. Quan Wang
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  4. Xinying Yang
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  5. Jiuwei Li
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  6. Qiang Sun
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  7. Xiaoxia Peng
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  8. Peichang Wang
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Corresponding author

Correspondence to Peichang Wang.

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Li, Q., Song, W., Wang, Q. et al. Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: A prospective cohort study . Indian Pediatr 52, 119–124 (2015). https://doi.org/10.1007/s13312-015-0584-3

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  • DOI: https://doi.org/10.1007/s13312-015-0584-3

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