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

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 e...

Full description

Saved in:
Bibliographic Details
Published in:Journal of child neurology 2009-04, Vol.24 (4), p.478-481
Main Authors: Tuba Eminoglu, F., Ozcelik, Aysima A., Okur, Ilyas, Tumer, Leyla, Biberoglu, Gursel, Demir, Ercan, Hasanoglu, Alev, Baumgartner, Matthias R.
Format: Article
Language:English
Subjects:
Adult
Brain - enzymology
Brain - physiopathology
Carbon-Carbon Ligases - deficiency
Carbon-Carbon Ligases - genetics
Carnitine - metabolism
Cells, Cultured
Child, Preschool
DNA Mutational Analysis
Epilepsy - enzymology
Epilepsy - genetics
Epilepsy - physiopathology
Fibroblasts - enzymology
Gene Deletion
Genetic Predisposition to Disease - genetics
Genetic Testing
Genotype
Glycine - analogs & derivatives
Glycine - urine
Humans
Infant
Language Development Disorders - enzymology
Language Development Disorders - genetics
Language Development Disorders - physiopathology
Male
Mutation - genetics
Phenotype
Valerates - urine
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073808324536