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Updated: Feb 21, 2026
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A
Andressa Romão1, Priscila Endlich Alves Simon2, José Eduardo Coutinho Góes3
1Hospital Ministro Costa Cavalcanti, Foz do Iguaçu, PR, Brasil.
Insights
Inborn errors of metabolism (IEM) present significant diagnostic challenges in pediatrics. Early identification of IEM symptoms like cognitive impairment and seizures is crucial for effective treatment and preventing long-term health issues.
Area of Science:
- Pediatric Medicine
- Clinical Genetics
- Metabolic Disorders
Background:
- Inborn errors of metabolism (IEM) are a group of genetic disorders that disrupt metabolic pathways.
- Accurate and timely diagnosis of IEM is essential for effective management and prevention of severe complications.
- Pediatric reference facilities play a critical role in identifying and managing complex pediatric conditions like IEM.
Purpose of the Study:
- To characterize the initial clinical presentation of patients investigated for inborn errors of metabolism (IEM).
- To identify common signs, symptoms, and laboratory findings associated with confirmed IEM cases.
- To understand the diagnostic challenges faced in pediatric practice regarding IEM.
Main Methods:
- A cross-sectional, observational study was conducted from January 2009 to December 2013.
- Data were collected from 144 pediatric outpatients referred for IEM investigation.
- Variables included clinical presentation, family history, and laboratory abnormalities; descriptive statistics were used.
Main Results:
- Of 144 patients, 8.3% were diagnosed with IEM, including aminoacidopathies, organic acidemias, urea cycle disorders, and lysosomal storage diseases.
- The most common initial signs and symptoms were cognitive impairment, seizures, growth retardation, and developmental delay.
- Key laboratory findings included hyperammonemia and metabolic acidosis.
Conclusions:
- Diagnosing IEM in pediatric practice remains challenging due to limited access to specialized tests, a shortage of experts, and insufficient knowledge dissemination.
- Early recognition of IEM, considering factors like cognitive impairment and seizures, is vital for timely intervention.
- Prompt diagnosis significantly impacts treatment outcomes and the prevention of sequelae in children with IEM.
Objective:
To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care.
Methods:
Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion criterion: referral to IEM investigation. Exclusion criterion: prior diagnosis of IEM. Analyzed variables: identification data; status of diagnostic investigation; family history of IEM; initial clinical presentation, laboratory abnormalities related to the hypothesis of IEM. Descriptive statistical methods were used in the data analysis.
Results:
We included 144 patients in the study, of which 62.5% were male. The mean and median ages were, respectively, 4.3 ± 4.7 years and 2.6 years. Twelve patients (8.3%) had a confirmed diagnosis of IEM (three with aminoacidopathies, three with organic acidemias, two with urea cycle disorders and four with lysosomal storage diseases). Cognitive impairment and seizures were the initial signs and symptoms, followed by growth retardation, neuropsychomotor developmental delay, seizures and hepatomegaly. The main laboratory abnormalities in the diagnosis were hyperammonemia and metabolic acidosis.
Conclusions:
The diagnosis of IEM still creates challenges to the pediatric practice. In this study, we identified the following factors: difficulty to access specific laboratory tests, reduced number of experts and poor dissemination of knowledge among healthcare schools. The early diagnosis of IEM majorly impacts the treatment and prevention of sequelae and should be considered in the initial diagnostic hypotheses.
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