Abstract
A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted.
Conclusion In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of “metabolic stroke”.
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Received: 24 March 1998 / Accepted in revised form: 29 December 1998
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Steen, C., Baumgartner, E., Duran, M. et al. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. Eur J Pediatr 158, 730–733 (1999). https://doi.org/10.1007/s004310051189
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DOI: https://doi.org/10.1007/s004310051189