Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
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.
Beekman
R P
RP
Twenteborg Hospital, Almelo, The Netherlands.
Hofstee
N
N
Smeitink
J A
JA
Poll-The
B T
BT
Duran
M
M
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*
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase