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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

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[Clinical analysis of 15 851 children at risk of inherited metabolic diseases]

Shu-Xiang Lin1, Jian-Bo Shu, Chao Wang

  • 1Tianjin Children's Hospital, Tianjin 300074, China. zhangyuqin0809@sina.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|December 15, 2017
PubMed

Insights

Urine gas chromatography-mass spectrometry (GC-MS) effectively screens children for inherited metabolic diseases (IMD). Methylmalonic acidemia is the most common IMD, with distinct neonatal and non-neonatal clinical signs.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Inherited metabolic diseases (IMD) are a group of genetic disorders affecting metabolism.
  • Early screening and diagnosis are crucial for managing IMD in children.
  • Urine gas chromatography-mass spectrometry (GC-MS) is a diagnostic tool for metabolic profiling.

Purpose of the Study:

  • To evaluate the utility of urine GC-MS for screening at-risk children for IMD.
  • To determine the spectrum of IMD identified in the study population.
  • To characterize the clinical presentations of IMD in children.

Main Methods:

  • Retrospective analysis of clinical data from 15,851 children.
  • Children were screened for IMD using urine GC-MS between February 2012 and December 2016.
  • Clinical manifestations were analyzed based on diagnosis and age at presentation (neonatal vs. non-neonatal).

Main Results:

  • Metabolic disorders were detected in 36.55% of the screened children.
  • 117 children (0.74%) were diagnosed with IMD, with methylmalonic acidemia being the most frequent (65.8%).
  • Neonatal IMD cases presented with jaundice, metabolic acidosis, and lethargy; non-neonatal cases showed developmental delay, seizures, and anemia.

Conclusions:

  • Urine GC-MS is a valuable and effective screening method for identifying children with IMD.
  • Methylmalonic acidemia is the predominant IMD in this pediatric cohort.
  • Clinical symptoms of IMD vary significantly between neonatal and non-neonatal periods.
Abstract

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