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      Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

      , ,
      The Journal of Pediatrics
      Elsevier BV

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          Abstract

          Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids manifested by episodic hypoglycemia, encephalopathy, apnea, and sudden death. Medical data were obtained on 120 patients with medium-chain acyl-coenzyme A dehydrogenase deficiency referred to Duke University Medical Center for biochemical testing. There were 55 male and 65 female subjects ranging from birth to 19 years of age; 118 subjects were white. Twenty-three children (19%) died before the diagnosis was made. Follow-up data were available in the 97 surviving patients for an average of 2.6 years after diagnosis. Psychodevelopmental data were collected on 73 patients older than 2 years of age. Unexpected morbidity included developmental and behavioral disability, chronic muscle weakness, failure to thrive, and cerebral palsy. We conclude that unidentified patients with this disorder have a significant risk of sudden death in early childhood and that survivors have a significant risk of developmental disability and chronic somatic illness.

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          Author and article information

          Journal
          The Journal of Pediatrics
          The Journal of Pediatrics
          Elsevier BV
          00223476
          March 1994
          March 1994
          : 124
          : 3
          : 409-415
          Article
          10.1016/S0022-3476(94)70363-9
          8120710
          1a44c8ca-b4fd-4ce8-b04c-9f1df29a3be5
          © 1994

          https://www.elsevier.com/tdm/userlicense/1.0/

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