There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
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.