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Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq
Hassan A Altimimi1, Hussein F Aljawadi2, Esraa A Ali2
1Pediatrics Department, Misan Hospital for Child and Maternity, Misan, Iraq.
Insights
Inborn errors of metabolism (IEM) were found in 17.9% of Iraqi children with unexplained developmental delay. Early diagnosis through newborn screening is crucial for effective treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Unexplained developmental delay in children can stem from various causes.
- Inborn errors of metabolism (IEM) are a significant, often treatable, group of genetic disorders.
- Identifying IEM is critical for timely intervention and improved outcomes.
Purpose of the Study:
- To determine the prevalence and types of inborn errors of metabolism (IEM) in children presenting with unexplained developmental delay.
- To investigate the association between family history, consanguinity, and IEM in this population.
Main Methods:
- A cross-sectional study was conducted in Misan, Iraq, over one year.
- 112 infants with unexplained developmental delay were assessed through parental interviews.
- Tandem mass spectrometry (MS/MS) was utilized for biochemical analysis.
Main Results:
- Twenty (17.9%) participants showed abnormal MS/MS results, indicating IEM.
- Amino acid metabolism disorders were most common (10 cases), including phenylketonuria and maple syrup urine disease.
- A positive family history was a significant factor (p < 0.001) associated with IEM.
Conclusions:
- A high prevalence of IEM was observed in children with unexplained developmental delay in Misan, Iraq.
- Clinical suspicion, supported by family history and MS/MS, aids in diagnosis.
- Implementing newborn screening programs is vital for early detection and management of IEM in Iraq.
Objectives:
We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types.
Methods:
We conducted a cross-sectional study in Misan, Iraq, over a period of one year. A total of 112 infants with unexplained developmental delay were included in the study, and the required information was taken from their parents by direct interview. Tandem mass spectrometry (MS/MS) was done in collaboration with MedLabs' Referral Laboratory in Amman, Jordan.
Results:
Twenty (17.9%) cases had abnormal MS/MS. Disorders of amino acid metabolism represented the majority of IEM (10 cases) in which phenylketonuria and maple syrup urine disease were the most common (found in five cases each). Organic and fatty acid metabolisms were found in five and two cases, respectively. Most cases of IEM had a positive family history and consanguinity, however, family history was the only significant factor (p < 0.001).
Conclusions:
A high rate of IEM was detected in children with unexplained developmental delay in Misan. A high clinical suspicion with positive family history and consanguinity supported by the MS/MS results played an essential role in the diagnosis. However, implementation of newborn screening is essential for early diagnosis and to determine appropriate therapy in newborns with IEM in Iraq generally and in Misan in particular.
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