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3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family

Department of Pediatric Metabolism and Nutrition, tubaeminoglu{at}yahoo.com.tr

Aysima A. Ozcelik, MD

Department of Pediatric Neurology Gazi University Hospital, Ankara, Turkey

Ilyas Okur, MD

Department of Pediatric Metabolism and Nutrition

Leyla Tumer, MD

Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey

Gursel Biberoglu, PhD

Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey

Ercan Demir, MD

Department of Pediatric Neurology, Gazi University Hospital, Ankara, Turkey

Alev Hasanoglu, MD

Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey

Matthias R. Baumgartner, MD

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland

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.

Key Words: 3-methylcrotonyl-CoA carboxylase (MCC) deficiency • seizure • mutation

Journal of Child Neurology, Vol. 24, No. 4, 478-481 (2009)
DOI: 10.1177/0883073808324536


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