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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Presentation

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When an infant presents with hypoglycemia, acidosis, hepatomegaly, and respiratory arrest, the neonatal team must be alert to the possibility of a metabolic disorder. Among those to be considered is medium-chain acyl-CoA dehydrogenase deficiency, which occurs in 1 in 10,000–23,000 live births. Recognizing and treating this disorder early could decrease the morbidity and mortality associated with the diagnosis.

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Document Type: Research Article

Publication date: September 1, 2005

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