title: Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
abstract: A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years.
authors.affiliation: Twenteborg Hospital, Almelo, The Netherlands.
authors.forename: R P
authors.initials: RP
authors.lastname: Beekman
authors.forename: N
authors.initials: N
authors.lastname: Hofstee
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: M
authors.initials: M
authors.lastname: Duran
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications; D015518:Rett Syndrome / Q000150:complications*
chemical_list: D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase