Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease.

Abstract excerpt

Branched chain alpha-ketoacid dehydrogenase assembles around a core of the acyltransferase components on the matrix side of the mitochondrial inner membrane. Autosomal recessive mutations in humans are known to decrease the function of this complex resulting in the clinical phenotype of maple syr...

Topics

• Acyltransferases
• Alleles
• Base Sequence
• Blotting, Western
• Cell Line, Transformed
• Chromosome Deletion
• Exons
• Female
• Heterozygote
• Humans
• Male
• Maple Syrup Urine Disease
• Molecular Sequence Data
• Mutation
• Nucleic Acid Conformation
• Repetitive Sequences, Nucleic Acid