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Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

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Abstract

Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated. In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Data were collected retrospectively from 115 emergency visits of 29 children with MSUD over a 4-year period in a major referral hospital. Variables in visits with and without AMD were compared using t test, Mann-Whitney U test, and chi-square test. Logistic regression was used to identify independent variables associated with decompensations. Cut-off values of laboratory variables were determined with receiver operating characteristic curves and correlations with Spearman’s rank correlation. Most important variables independently associated with AMD were poor feeding, malaise, anion gap, and especially uric acid, which correlated with leucine levels. Vomiting, dehydration, neurological signs, ketonuria, and ketoaciduria were also associated with AMD. Although sodium, chloride, and glucose were lower in AMD, they had little diagnostic value.

Conclusion: In children with MSUD, uric acid and anion gap are key markers for AMD. Poor feeding and malaise are clues before the onset of neurological symptoms. These simple parameters can help determine the presence of AMD in emergency settings.

What is Known:

• In maple syrup urine disease, acute metabolic decompensations are characterized by gastrointestinal and neurological findings.

• Diagnosis requires detection of significantly elevated leucine, which may take a long time or not be available.

What is New:

• Poor feeding, malaise, hyperuricemia, and high anion gap are parameters that can help diagnose acute decompensations in children with maple syrup urine disease at emergency departments.

• Uric acid may be a biomarker for acute decompensations because of its high sensitivity, specificity, and its strong correlation with leucine.

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Abbreviations

AMD:

Acute metabolic decompensation

BCAA:

Branched-chain amino acid

BUN:

Blood urea nitrogen

DNPH:

Dinitrophenylhydrazine

IQR:

Interquartile range

MSUD:

Maple syrup urine disease

pCO2 :

Partial pressure of carbon dioxide

PED:

Pediatric emergency department

ROC:

Receiver operating characteristic

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Acknowledgments

The authors would like to acknowledge the contributions of Ebru Canda, Mahmut Çoker, Fatih Süheyl Ezgü, Sema Kalkan Uçar, Deniz Kör, İlyas Okur, Halise Neslihan Önenli Mungan, and Leyla Tümer for their valuable opinions in determining the criteria for acute metabolic decompensation, Rıza Köksal Özgül for providing the genotypes of the patients, Berrak Bilginer Gürbüz and Emine Pektaş for having taken part in patient management, and Duygu Aydın Haklı for her assistance in statistical analyses.

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Authors and Affiliations

  1. Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children’s Hospital, Ankara, Turkey

    Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun & Hatice Serap Sivri

  2. Division of Pediatric Emergency, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children’s Hospital, Ankara, Turkey

    Leman Akcan Yıldız & Özlem Tekşam

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  1. Yılmaz Yıldız
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  2. Leman Akcan Yıldız
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  3. Ali Dursun
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  4. Ayşegül Tokatlı
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  5. Turgay Coşkun
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Contributions

YY, ÖT, and HSS designed and conceptualized the study. YY, LAY, AD, AT, TC, and HSS acquired the data. YY, LAY, and HSS analyzed and interpreted the data. YY and LAY wrote the manuscript draft, which was critically revised by AD, AT, TC, ÖT, and HSS. ÖT and HSS supervised the work. All authors read and approved the final version of the manuscript.

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Correspondence to Yılmaz Yıldız.

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The authors declare that they have no conflict of interest.

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This article does not contain any studies with human participants or animals performed by any of the authors. The institutional ethics board for non-interventional clinical studies approved the study.

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Communicated by Peter de Winter

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Yıldız, Y., Akcan Yıldız, L., Dursun, A. et al. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department. Eur J Pediatr 179, 1107–1114 (2020). https://doi.org/10.1007/s00431-020-03602-x

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  • DOI: https://doi.org/10.1007/s00431-020-03602-x

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