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Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
Oğuzhan Tin1, Tanyel Zübarioğlu2, Mehmet Şerif Cansever3
1Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
Insights
Expanded newborn screening can identify maternal inborn errors of metabolism. This study found metabolic disorders in 23.5% of mothers based on their babies' screening results, aiding early diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pathologic results in expanded metabolic screening can stem from medications, sampling errors, or maternal inborn errors of metabolism.
- Identifying maternal inborn errors of metabolism (IEM) is crucial for accurate diagnosis and management.
Purpose of the Study:
- To identify mothers with inborn errors of metabolism by analyzing their infants' abnormal expanded metabolic screening results.
- To highlight the utility of expanded metabolic screening in detecting undiagnosed maternal IEM.
Main Methods:
- Retrospective single-centered study including infants under 1 year with pathologic expanded newborn screening results and their mothers.
- Collected and analyzed expanded metabolic screening data for both infants and mothers.
- Recorded clinical and laboratory findings in mothers suggestive of IEM.
Main Results:
- Seventeen mother-infant pairs were enrolled in the study.
- Abnormal expanded metabolic screening results were consistent with inborn errors of metabolism in 4 out of 17 mothers (23.5%).
- Specific diagnoses in mothers included 3-methylcrotonyl-CoA carboxylase deficiency (2 mothers) and glutaric aciduria type 1 (2 mothers).
Conclusions:
- Inborn errors of metabolism can manifest at any life stage, including adulthood.
- This study is the first in Turkey to demonstrate the value of expanded metabolic screening (using tandem mass spectrometry) for early IEM diagnosis in both pediatric patients and adults.
- Expanded metabolic screening is a valuable tool for detecting previously undiagnosed maternal inborn errors of metabolism.
Objective:
Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism. The aim of this study is to identify mothers with inborn errors of metabolism through the pathologic expanded metabolic screening results of their babies.
Materials And Methods:
Babies who were under 1 year of age and had a pathologic result of an expanded newborn screening for inborn errors of metabolism and their mothers were included in this retrospective single-centered study. Data of expanded metabolic screening results of both babies and their mothers were recorded. Clinical and laboratory findings relevant to suspected inborn errors of metabolism due to the pathologic screening results analysis were also noted for the mothers.
Results:
Seventeen babies and their mothers were enrolled. Expanded metabolic screening results were found compatible with inborn errors of metabolism in 4 (23.5%) of 17 mothers. Two of these mothers were diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency and 2 mothers were diagnosed with glutaric aciduria type 1.
Conclusion:
Inborn errors of metabolism can present in any period of life, and this is the first study to address the importance of metabolic screening via tandem mass spectrometry in terms of early diagnosis of inborn errors of metabolism not only in pediatric aged patients but also in adulthood in Turkey. The performance of expanded metabolic screening tests may be an important step in terms of detecting maternal inborn errors of metabolism that are not diagnosed until adulthood.
