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.
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Abbreviations
- MCAD :
-
medium-chain acyl-CoA dehydrogenase
- OFC :
-
occipito-frontal circumference
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Beekman, R.P., Hofstee, N., Smeitink, J.A.M. et al. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 153, 264–266 (1994). https://doi.org/10.1007/BF01954516
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DOI: https://doi.org/10.1007/BF01954516