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- Title
3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family.
- Authors
Eminoglu, F. Tuba; Ozcelik, Aysima A.; Okur, Ilyas; Tumer, Leyla; Biberoglu, Gursel; Demir, Ercan; Hasanoglu, Alev; Baumgartner, Matthias R.
- Abstract
A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who was the index patient, was admitted to the hospital with atonic seizure. His brother had delayed language development and their uncle had been followed with diagnosis of epilepsy for the last 5 years. Urinary organic acid analysis displayed elevated 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, analysis of acylcarnitines showed elevated 3-hydroxyisovalerylcarnitine and decreased free carnitine levels in both the patients and their uncle. Methylcrotonyl-CoA carboxylase activity in cultured fibroblasts displayed a low residual activity of 2.2% of the median control value while propionyl-CoA carboxylase activity was normal in the index patient. Mutation analysis revealed a large homozygous deletion of 2264 bp (c.873+4524_6787de12264) in the MCCA gene, which has not been described to date. Adult-onset afebrile seizures have not been reported in the literature. Our cases are an example of this wide phenotypic variability within a single family.
- Subjects
GENETIC disorders; FAMILIAL diseases; SPASMS; FIBROBLASTS; BRAIN diseases; MEDICAL research
- Publication
Journal of Child Neurology, 2009, Vol 24, Issue 4, p478
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073808324536