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Organic acidurias in Egyptian children: The urge for high-risk screening
Dina A Mehaney1,2, Zeinab S Seliem3, Laila A Selim4
1Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.
Insights
Organic acidurias, a group of metabolic disorders, were frequently found in high-risk Egyptian children. Early detection through high-risk screening is crucial for timely intervention and improved outcomes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Organic acidurias are inborn errors of metabolism posing diagnostic challenges.
- These disorders are common in high-risk pediatric populations, leading to significant morbidity and mortality.
- Gas chromatography-mass spectrometry (GC-MS) is a key diagnostic tool for organic acidurias.
Purpose of the Study:
- To determine the frequency of organic acidurias in high-risk Egyptian children.
- To emphasize the importance of high-risk screening for early detection of these metabolic disorders.
- To identify common organic acidurias in the studied pediatric cohort.
Main Methods:
- A cohort of 150 high-risk children was evaluated.
- Urine organic acid analysis was performed using gas chromatography-mass spectrometry (GC-MS).
- Patients were recruited from Cairo University Children Hospital's inherited metabolic disease and pediatric intensive care units.
Main Results:
- Thirty percent (45/150) of patients exhibited altered organic acid profiles.
- Neurological manifestations were the most frequent clinical presentation.
- Glutaric aciduria type I and maple-syrup urine disease were the most prevalent identified disorders.
Conclusions:
- GC-MS detection of organic acids is vital for diagnosing metabolic disorders.
- High-risk screening is recommended for early identification and intervention in Egyptian children.
- Establishing a national expanded newborn screening program is essential.
Background:
Organic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. They are considered the most frequent inborn errors of metabolism among high-risk children. Gas chromatography-mass spectrometry is a reliable diagnostic technique for organic acidurias. This hospital-based study aimed to quantify the frequency of organic acidurias among a group of high-risk Egyptian pediatric patients and to highlight the importance of high-risk screening for such disorders.
Methods:
One hundred and fifty high-risk children who presented to the inherited metabolic disease unit and the pediatric intensive care units of Cairo University Children Hospital were tested for urine organic acids using gas chromatography-mass spectrometry.
Results:
Thirty percent (45/150) of the patients were confirmed as having an altered organic acids profile. Neurological manifestations were the most common presentation. Glutaric aciduria type I and maple-syrup urine disease were the most common disorders encountered among the group that was studied.
Conclusion:
Organic acid detection by gas chromatography-mass spectrometry is key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high-risk screening is strongly encouraged for the early detection of, and proper intervention for such disorders among Egyptian children.
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