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Pediatr Int ; 65(1): e15469, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36609685

RESUMO

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.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Doenças Metabólicas , Recém-Nascido , Criança , Humanos , Egito/epidemiologia , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Triagem Neonatal , Cromatografia Gasosa-Espectrometria de Massas/métodos
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